Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Nephronophthisis 13 |
|
Pancreatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Intrahepatic bile ... |
OMIM:614377 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Preaxial foot polydactyly, Multinodular goiter, Bilateral triphalangeal thumbs, Renal cyst, Posta... |
OMIM:138790 |
Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
Meckel Syndrome, Type 3 |
|
Polydactyly, Hepatic fibrosis, Multicystic kidney dysplasia, Malformation of the hepatic ductal p... |
OMIM:607361 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Multinodular goiter... |
ORPHA:2091 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Patent ductus arteriosus, Preaxial hand polyd... |
ORPHA:1120 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Short stature, Polysplenia, Polycystic kidney dysplasia, Polycystic liver disea... |
OMIM:211890 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Congenital malformation of the great arteries, Polydactyly, Abnormal cardiac septum morphology, U... |
ORPHA:294975 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Early ossification of capital femoral epiphyses, Conjugated hyperbilirub... |
OMIM:208500 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... |
OMIM:263200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... |
OMIM:614480 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation,... |
OMIM:616307 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... |
OMIM:619658 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Multicystic kidney dysplasia, Renal dysplasia, Intestinal malrotatio... |
ORPHA:3032 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Short stature, Abnormality of the kidney, Elevated hepatic transamin... |
ORPHA:369 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Absent thumb, Patent ductus arteriosus, Abnor... |
ORPHA:392 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Abnormality of the pancreas, Multicystic kidney dysplasia, Clubbing of toes, Ab... |
ORPHA:1318 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Glycosuria, Abnormali... |
ORPHA:552 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Periportal fibrosis, Postaxial polydactyly |
OMIM:213010 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Abnormal lung lobation, Aortopu... |
OMIM:208530 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormal localization of kidney, Prol... |
ORPHA:446 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... |
OMIM:600803 |
Orofaciodigital Syndrome Type 1 |
|
Lip pit, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Cleft palate, Odontogenic ne... |
ORPHA:2750 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Argininosuccinic a... |
OMIM:603471 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... |
ORPHA:185 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease... |
OMIM:267010 |
Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Renal cyst, Bile duct proliferation, Postaxial hand polydactyly, Clef... |
OMIM:611561 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Elevated hepati... |
OMIM:619902 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt... |
OMIM:311200 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Ventricular septal defect, Cardiac total anomalous pulm... |
OMIM:608978 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Dislocated radial head, Abno... |
ORPHA:401935 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Craniosynostosis, Adelaide Type |
|
Carpal bone malsegmentation, Hallux valgus, Shortening of all distal phalanges of the fingers, Co... |
OMIM:600593 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short 1st metacarpal, Broad middle phalanx of finger, Delayed ossification of carpal bones, Clino... |
OMIM:182255 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Fat mala... |
ORPHA:79302 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fi... |
OMIM:602347 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Polydactyly, Renal insufficiency |
OMIM:615987 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... |
OMIM:616278 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, High palate, Short femoral neck, Abnormal carpal morphology, Ul... |
ORPHA:2632 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot po... |
OMIM:614120 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Microdontia, Micrognathia, Bifid uvula, Hepatosplenomegaly, Reduced rena... |
OMIM:266920 |
African Iron Overload |
|
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio... |
ORPHA:139507 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kin... |
OMIM:232400 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Ventricular septal defect, Clubbing, Coarctation of aorta, Split hand, ... |
OMIM:600460 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Hydranencephaly, Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Hyper... |
OMIM:615710 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... |
ORPHA:860 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Elevated hepa... |
OMIM:613313 |
Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticom... |
ORPHA:731 |
Juberg-Hayward Syndrome |
|
Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Cleft upper lip, Decreased respo... |
OMIM:216100 |
Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic l... |
OMIM:602114 |
Radial Hemimelia |
|
Deviation of the hand or of fingers of the hand, Aplasia of the 1st metacarpal, Abnormality of th... |
ORPHA:93321 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Renal tubular atrophy, Chronic pancreatitis, Stage 5 chronic kidney disease, Re... |
OMIM:613159 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Meckel Syndrome, Type 2 |
|
Polydactyly, Renal cyst, Intestinal malrotation, Bile duct proliferation, Postaxial hand polydact... |
OMIM:603194 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Genu valgum, Short stature, Short long bone, Impaired glucose ... |
OMIM:615630 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Short stature, Type II diabetes mellitus, Hypoplasia of penis, Hand polydactyl... |
ORPHA:2377 |
Acrootoocular Syndrome |
|
Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Cutaneous... |
ORPHA:2980 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... |
OMIM:217095 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Respiratory tract infection, Bronchiectasis, Hydrocephalus, Peribr... |
ORPHA:244 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephroblastoma, Parathyroid adenoma, Papillary... |
OMIM:145001 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Cryptorchidism, Brachydactyly |
OMIM:615982 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, ... |
OMIM:618955 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Villous atrophy, Jaundice, Ele... |
ORPHA:567983 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic fibrosis, Aplasia of the bladder, Talipes equinovarus, Postaxial foot... |
OMIM:612284 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Biliary tract abnormality, Multiple glomerular cysts, Nephrolithia... |
OMIM:137920 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Bilateral talipes equinovarus, Right ... |
OMIM:306955 |
Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hepatic ... |
OMIM:278000 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short uvula, Cleft palate, Sparse hair, Hepatic fibrosis, Aplasia/Hypoplasia of the ... |
OMIM:614091 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Spina bifida ... |
ORPHA:1452 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Portal fibrosis, Elevated circulating creatinine... |
OMIM:619111 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Fat malabsorption, Jaundi... |
ORPHA:30391 |
Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Genu valgum, Left superior vena cava draining to coronary sinus, C... |
OMIM:619143 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... |
OMIM:601346 |
Hemochromatosis Type 2 |
|
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Elevated transferr... |
ORPHA:79230 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Abnormal lung lobation... |
ORPHA:2516 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... |
OMIM:271500 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... |
ORPHA:2184 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steat... |
ORPHA:280356 |
Perlman Syndrome |
|
Retrognathia, Broad alveolar ridges, Micrognathia, Open mouth, Hypoplasia of penis, Abnormal uppe... |
ORPHA:2849 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Epiphyseal stippling, Hepatomegaly |
OMIM:614859 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly |
OMIM:176305 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Reduced ... |
OMIM:260370 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Hepat... |
OMIM:232220 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carc... |
OMIM:232200 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... |
ORPHA:750 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Polydactyly, Hepatic fibrosis, Stage 5 chronic kidney disease, Hypo... |
OMIM:616629 |
Meckel Syndrome |
|
Asplenia, Micrognathia, Furrowed tongue, Postaxial hand polydactyly, Cleft palate, Congenital hep... |
ORPHA:564 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Membranoproliferative glomerulonephritis, Type I diabetes mellitus, Hepatosplen... |
OMIM:619858 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Hallux valgus, Clinodactyly of the 5th finger, Large fontanelles,... |
OMIM:616863 |
Senior-Boichis Syndrome |
|
Abnormal renal insterstitial morphology, Elevated hepatic transaminase, Malformation of the hepat... |
ORPHA:84081 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Talipes... |
OMIM:616719 |
Zimmermann-Laband Syndrome |
|
High palate, Hallux valgus, Sensorineural hearing impairment, Wide mouth, Thickened ears, Hypodon... |
ORPHA:3473 |
Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Intrauterine growth retardation, Long penis, Postprandial hyp... |
OMIM:246200 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ove... |
OMIM:617478 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the liver, Hypoplastic ilia, Abnormal long bone morp... |
ORPHA:140976 |
Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Short 4th metacarpal, ... |
OMIM:311300 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Biliary cirrhosis, Hepatic cysts, Liver abscess, Abnormal spleen morphology, Ja... |
ORPHA:284 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary hypoplasia, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:3384 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Abnormality of the ischium, Enlarged kidney, Abnormal spleen morphology, Hepato... |
ORPHA:464329 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered finger, Tapered toe, Renal dysplasia, Elbow flexion contracture, Elevated hepatic transam... |
OMIM:608836 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Joint contracture of the hand, Abnormal hallu... |
ORPHA:456312 |
Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal ... |
OMIM:617927 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
Senior-Loken Syndrome |
|
Short stature, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibrosis, Con... |
ORPHA:3156 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency |
OMIM:615991 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Renal cyst, Polycystic liver disease, Elevated circulating alkaline ph... |
OMIM:174050 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Renal hypoplasia/aplasia, Hip dysplasi... |
ORPHA:1988 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Caroli Disease |
|
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:53035 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Macrotia, High palate, Avascular necrosis of the capital femoral epiphys... |
ORPHA:77258 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... |
OMIM:232700 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Foot oligodactyly, Syndactyly, Renal hypoplasia, Brachydactyly, Esophageal vari... |
OMIM:616589 |
Meacham Syndrome |
|
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,... |
ORPHA:3097 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... |
ORPHA:1354 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Proximal tubulopathy, Villous atrophy, Steatorrhea,... |
OMIM:602579 |
Aa Amyloidosis |
|
Hypothyroidism, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidn... |
ORPHA:85445 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly |
ORPHA:64754 |
Craniosynostosis 2 |
|
Triphalangeal thumb, Cleft soft palate, Supernumerary tooth, Bicoronal synostosis, Unicoronal syn... |
OMIM:604757 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hip subluxation, Genu valgum, Reduced pancreatic beta cells, Coxa valga, High palate, Irregular c... |
OMIM:226980 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Jaundice, Polycystic kidney dysplasia, Ge... |
OMIM:231680 |
Trichorhinophalangeal Syndrome Type 2 |
|
Vesicoureteral reflux, Genu valgum, Conductive hearing impairment, Joint dislocation, Avascular n... |
ORPHA:502 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Molar tooth sign on MRI, Clinodactyly, Spindle-shaped finger, Cutaneous syndactyly, ... |
ORPHA:166024 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Cleft... |
OMIM:619110 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th finger, Everted ... |
ORPHA:1515 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Fat malabsorption, Jaundice, Abnormal serum bile acid concentration, Elevated he... |
ORPHA:79303 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Enamel hypoplasia, Hypohidrosis, Yellow-brown discoloration of the teeth, Abnormality of dental m... |
ORPHA:69087 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic in... |
OMIM:615935 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Hypothyroidism, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas,... |
ORPHA:93111 |
Joubert Syndrome 36 |
|
Mesoaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:618763 |
Ectrodactyly-Polydactyly |
|
Postaxial hand polydactyly, Split foot, Split hand |
OMIM:225290 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Polycystic kidney dysplasia, Decreased plasma c... |
ORPHA:26791 |
Caroli Syndrome |
|
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Abnormality of the ductus choled... |
ORPHA:480520 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Aplastic clavicle, Delayed eruption of primary teeth, Wide anterior font... |
OMIM:620099 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... |
ORPHA:380 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... |
OMIM:615297 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acy... |
ORPHA:157 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Short stature, Hip dislocation, Steatorrhea, Hepatic steatosis,... |
OMIM:616263 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Fixed elbow flexion, Micrognathia, Fragmented epiphyses, D... |
ORPHA:166016 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia, Femoral bowing, Hypertrophic ca... |
OMIM:615415 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Epiphyseal stippling, Renal cyst, Hepatomegaly |
OMIM:614870 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal lung lobation, Pulmonary hypopl... |
ORPHA:2631 |
Feingold Syndrome |
|
Sensorineural hearing impairment, Hallux valgus, Esophageal atresia, Toe syndactyly, Micrognathia... |
ORPHA:1305 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corticomedullary c... |
OMIM:604387 |
Hyperbiliverdinemia |
|
Green urine, Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function... |
OMIM:614156 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... |
ORPHA:93351 |
Arthrogryposis, Distal, Type 1A |
|
Ulnar deviation of the hand or of fingers of the hand, Elbow flexion contracture, Camptodactyly, ... |
OMIM:108120 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Pheochromocytoma, Epididymal cy... |
OMIM:193300 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal i... |
OMIM:615993 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Pulm... |
OMIM:249670 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ... |
ORPHA:370 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria... |
ORPHA:228308 |
Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of the hand, Brachydactyly, A... |
ORPHA:1264 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, High palate, Thick lower lip vermilion, Bifid uvula, Submucous cle... |
OMIM:617412 |
Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Metaphyseal cupping, Abnormal carpal morphology, Hypoplastic pelvis, Malar flattening... |
ORPHA:85166 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease... |
OMIM:216360 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Medial flaring of the eyebrow, Multicystic kidney dysplasia, Finger syndactyly,... |
ORPHA:110 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, High palate, Midshaft hypospadias, Delayed ... |
ORPHA:2863 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Jaundice, Polycystic kidney d... |
OMIM:613095 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Multiple renal ... |
ORPHA:2924 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ... |
ORPHA:79240 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Decreased circu... |
OMIM:619481 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Genu valgum, Mandibular prognathia, Advanced ossification of carpal bones, Cox... |
OMIM:618363 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:618316 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... |
ORPHA:968 |
Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Finger syndactyly, Small hand, Micrognathia, Oligodontia, Supernumerary too... |
ORPHA:1787 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
ORPHA:264580 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Pulmonary hypoplasia, Ventricular septal defect |
OMIM:615524 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hypoplasia of the thymus, Joint contracture of the hand, Jaundice, Polycystic kidn... |
OMIM:214110 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid distal phalanx of the thumb, Conductive hearing impairment, Partial duplication of the dist... |
ORPHA:2669 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Neonatal death, Cardiomegaly, Pulmonary hypoplasia |
OMIM:614096 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Multiple glomerular cysts, Nephronop... |
ORPHA:1505 |
Meckel Syndrome, Type 4 |
|
Renal cyst, Bile duct proliferation, Postaxial hand polydactyly, Cleft palate, Bowing of the long... |
OMIM:611134 |
Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Molar tooth sign on MRI |
OMIM:614465 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus, Hand polydacty... |
OMIM:314390 |
Tyrosinemia, Type I |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Elevated circulating alpha-fetoprotein c... |
OMIM:276700 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Hypoplastic colon, Pancre... |
OMIM:200995 |
Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta... |
OMIM:258850 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Diamond-Blackfan Anemia 20 |
|
Acetabular dysplasia, Total anomalous pulmonary venous return |
OMIM:618313 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Bilateral lung agenesis,... |
OMIM:601186 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morp... |
ORPHA:2470 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Abnormal jaw morphology, Yellow-brown discoloration of the teeth, Enamel hypom... |
ORPHA:88661 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Decreased testicular size, Hip dysplasia, Thick lower lip v... |
ORPHA:10 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Orofaciodigital Syndrome Xvii |
|
Retrognathia, Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fing... |
OMIM:617926 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... |
OMIM:619484 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Ventricular septal defect, Radiou... |
ORPHA:2876 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Genu recurvatum, Delaye... |
OMIM:177170 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:619582 |
Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Frontotemporal hypertrichosis, Periportal fibrosis, Short long bone, Polycystic kidney dysplasia,... |
OMIM:263210 |
Infantile Liver Failure Syndrome 3 |
|
Abnormality of the epiphysis of the femoral head, Jaundice, Elevated hepatic transaminase, Hepati... |
OMIM:618641 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Elevated hepatic transamin... |
ORPHA:261265 |
Nephronophthisis 15 |
|
Nephronophthisis, Polydactyly, Elevated hepatic transaminase |
OMIM:614845 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Bifid tongue, Renal dysplasia, Cleft palate, Talipes equinovarus, Enlarged kidney, Polycystic kid... |
OMIM:613091 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Lobulated tongue, Camptodactyly, Renal cyst, Horseshoe kidney, Clef... |
OMIM:614815 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatic fibrosis, Acute hepatic failure, Talipes equinovarus, Hepatosplenomegaly |
ORPHA:466794 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Alopecia, Hepatic fibrosis, Hepatic failure, Sparse eyebrow, Sclero... |
OMIM:607626 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Hallux valgus, Finger syndactyly, Truncus arteriosus, Foot polydactyly, ... |
ORPHA:2008 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging... |
OMIM:616331 |
49,Xyyyy Syndrome |
|
Short 5th finger, Abnormality of the testis size, Decreased testicular size, Bridged palmar creas... |
ORPHA:99330 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia, Bilateral single transverse palmar creases |
ORPHA:3033 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Hallux valgus, Elbow flexion contracture, Camptodactyly, Hepatosplenomeg... |
OMIM:602782 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Protein-losing ent... |
ORPHA:79319 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return |
OMIM:106700 |
Mirizzi Syndrome |
|
Cholesterol gallstones, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated cir... |
ORPHA:521219 |
Meckel Syndrome, Type 10 |
|
Postaxial polydactyly, Bifid uvula, Camptodactyly, Malformation of the hepatic ductal plate, Post... |
OMIM:614175 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Hip dysplasia, Hydrocephalus, Pulmonary hypoplasia, Atrial septal defec... |
ORPHA:2655 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Arteria lusoria, Patent ductus ar... |
ORPHA:99050 |
Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short long bone, Atrial septal defec... |
OMIM:225500 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Joint contracture of the hand, ... |
OMIM:136760 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Increased serum iron, Periportal fib... |
ORPHA:101330 |
Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Coloboma, Absent distal pha... |
OMIM:120400 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Rectal atresia, Hypoplasia of the radius, Stage 5 chronic kidney disease, Anal atre... |
OMIM:613390 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Microdontia, Micrognathia, Prominent antihelix, Short palm, Talipes eq... |
OMIM:268400 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Distal Monosomy 12Q |
|
2-3 toe syndactyly, Bilateral conductive hearing impairment, Micrognathia, Elbow flexion contract... |
ORPHA:96149 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalocele, Finger syndactyly... |
ORPHA:1908 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Absent radius, Hypopla... |
OMIM:115470 |
Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis,... |
ORPHA:93320 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Micrognathia, Hip dislocatio... |
OMIM:119600 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Microdontia, Pulp calc... |
OMIM:606895 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:620010 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Insulin resistance, Polycystic ovaries, Hirsutism, ... |
ORPHA:90301 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... |
OMIM:612946 |
Mohr Syndrome |
|
Conductive hearing impairment, Bifid tongue, Micrognathia, Partial duplication of the phalanges o... |
OMIM:252100 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Genu valgum, Abnormality of the knee, Coxa vara, Short femoral neck, Abnor... |
ORPHA:93316 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Nephrotic syndrome, Partial duplication of the distal phalanx ... |
OMIM:256200 |
Abruzzo-Erickson Syndrome |
|
Short toe, Coloboma, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atrial sep... |
ORPHA:921 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cir... |
OMIM:615486 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobinuria, Necrotizing enteroc... |
OMIM:201475 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Crossed fused renal ectopia, Unilateral renal agenesis, Overlapping toe, Preaxial po... |
OMIM:618142 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Micrognathia, Elbow dislocat... |
ORPHA:1507 |
Winchester Syndrome |
|
Arthropathy, Broad metacarpals, Carpal osteolysis, Gingival overgrowth, Osteolysis involving tars... |
OMIM:277950 |
Down Syndrome |
|
Hypoplastic iliac wing, Atrioventricular canal defect, Patent foramen ovale, Double outlet right ... |
OMIM:190685 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Pneumothorax, Ventricular septal defect, Bronchiectasis, Single ventric... |
ORPHA:95430 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
3-Methylglutaconic Aciduria Type 1 |
|
3-Methylglutaconic aciduria, Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Microdontia, Bifid uvula, Taurodontia, Supernumerary nipple, Decreased number of s... |
OMIM:129400 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Hearing abnormality, Mandibular prognathia, Cone-shaped epiphysis... |
ORPHA:2511 |
Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:614615 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Shor... |
OMIM:184260 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Retrognathia, Sensorineural hear... |
OMIM:194350 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Hyperhidrosis, Delayed closure of the anterior fontanelle, High palate, Clinodactyly... |
ORPHA:231140 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Cleft palate, Hyperechogenic kidneys, ... |
OMIM:613885 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... |
OMIM:601668 |
Say Syndrome |
|
Tapered finger, Cystic renal dysplasia, Proximal renal tubular acidosis, Short distal phalanx of ... |
OMIM:181180 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Stage 5 chronic kidney disease, Brachydactyly, Hepatic cysts |
OMIM:613819 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Preaxial hand polydactyly, Postaxial polysyndactyly of foot, Disproportionate s... |
OMIM:263520 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Finger syndactyly, Spina bifida occulta, Anomalous pulmonar... |
ORPHA:2311 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Bilateral t... |
OMIM:270100 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Severe intrauterine growth retardation, Diabetes mellitus, Hypoglycemia, P... |
OMIM:609069 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency, Colonic diverticula |
OMIM:173900 |
Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Anencephaly, Hydroceph... |
ORPHA:1335 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... |
ORPHA:3426 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotation, Congenital hip dis... |
ORPHA:1666 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... |
OMIM:615158 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Pulmonary hypoplasia, Overlapping fin... |
OMIM:616531 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary venous occlusion |
OMIM:265450 |
Arthrogryposis, Distal, Type 2B1 |
|
Camptodactyly of finger, Absent phalangeal crease, Mandibular prognathia, High palate, Ulnar devi... |
OMIM:601680 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Hydranencephaly, Single... |
OMIM:236500 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Absent thumb, Truncus arteriosus, Ventricular septa... |
OMIM:617516 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Renal cyst, Syndactyly, Duplication of phalanx of hallux, Hepatic cysts |
OMIM:263630 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Brachydacty... |
ORPHA:52056 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Retrognathia, Cleft soft palate, Long philt... |
ORPHA:2756 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... |
OMIM:617719 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Coloboma, Hydrocephalus, Atrial septal ... |
OMIM:220210 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Small hand, Perianal abscess, Long philtrum, Wide mouth, Clinodactyly, B... |
OMIM:614684 |
Atelosteogenesis Type I |
|
Joint dislocation, Short long bone, Micrognathia, Abnormal pancreatic duct morphology, Short femu... |
ORPHA:1190 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia, Hip dislocation, Hepatomegaly, Hepatosplenomegaly |
OMIM:608776 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
Joubert Syndrome 6 |
|
Nephronophthisis, Hepatic fibrosis, Bile duct proliferation, Stage 5 chronic kidney disease |
OMIM:610688 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Radial head subluxation, Patellar dislocation, Capitate-hamate fusion, Sh... |
OMIM:614078 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Synostosis of carpal bones, Abnorma... |
ORPHA:90650 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... |
OMIM:609945 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Protrusio acetabuli, Hypoplastic pulmonary veins, Coxa vara, Femoral retrove... |
OMIM:610682 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of toes, Pulmonary... |
ORPHA:2437 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Larsen Syndrome |
|
Accessory carpal bones, Conductive hearing impairment, Finger syndactyly, Large joint dislocation... |
ORPHA:503 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Esophage... |
ORPHA:64743 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamines, Hyperhidrosis, Renal cell carcinoma, Neoplasm ... |
ORPHA:892 |
Holzgreve Syndrome |
|
Renal hypoplasia, Cleft palate, Renal agenesis, Hand polydactyly |
OMIM:236110 |
Joubert Syndrome 7 |
|
Genu valgum, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Brainstem dyspl... |
OMIM:611560 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Monosomy 13Q34 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Common atrium, Pulmonic stenosis, Agenesi... |
ORPHA:96168 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Toe syndactyly, Microdontia, Broad hallux, Additional crus of antihelix, Posta... |
OMIM:620107 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hypercho... |
ORPHA:79259 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Otodental Dysplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... |
OMIM:166750 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Synophrys, Flared iliac wing, Hirsutism, Hepatomegaly, Coarse hair, Spleno... |
OMIM:617303 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia, Cardiomyopathy |
OMIM:619003 |
Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Bifid uvula, Galactosuria, Hepatomegaly, Renal cortical microcys... |
OMIM:222470 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Di... |
OMIM:603546 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hydrocephalus, Recurrent... |
OMIM:609029 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Jaundice, Talipes equinovarus, Hypospadias |
OMIM:245550 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Narrow pelvis bone, Nephrogen... |
OMIM:608022 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion |
OMIM:234810 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... |
ORPHA:562639 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Duplication of phalanx of hallux, Postaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:617127 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Elevated hepatic transaminase, Hypoglycemia, Bile d... |
OMIM:618329 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Polycystic kidney dysplasia, Ulnar bowing, Hypoplastic ischia,... |
OMIM:617866 |
Arima Syndrome |
|
Renal tubular atrophy, Hepatic fibrosis, Cirrhosis, Stage 5 chronic kidney disease, Renal sodium ... |
OMIM:243910 |
Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Preaxial hand polydactyly, Joint contracture of the hand, Preaxia... |
OMIM:175700 |
Distal Monosomy 17Q |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Small hand, Microtia, Abnormal meta... |
ORPHA:1597 |
Absence Of The Pulmonary Artery |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morph... |
ORPHA:980 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Pulmonary artery dilatation, Pleural effusion, Pulmonary artery st... |
OMIM:265380 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Axial Osteomalacia |
|
Renal cyst, Polycystic liver disease, Elevated circulating creatine kinase concentration |
OMIM:109130 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Coarctation of aorta, Arachnod... |
ORPHA:261243 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Ileoileal intussusception, Avascular necrosis... |
OMIM:619377 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Abnormal carpal morphology, Short middle phalanx of the 5th finger, Micro... |
OMIM:614851 |
Extracranial Carotid Artery Aneurysm |
|
Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Total anomalous pulmonary venous re... |
ORPHA:494424 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Brachydac... |
ORPHA:1937 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia... |
ORPHA:2847 |
Catel-Manzke Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Clinodactyly of the 5th fi... |
ORPHA:1388 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Abnormal mandible morphology, Tapered finger, Short 4th metac... |
ORPHA:3201 |
Protoporphyria, Erythropoietic, X-Linked |
|
Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Supernumerary tooth, Protruding ear, Abnormality of the ... |
ORPHA:627 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease, Hepatic fibrosis |
OMIM:612285 |
Aceruloplasminemia |
|
Cirrhosis, Hepatic fibrosis, Aceruloplasminemia, Decreased circulating ceruloplasmin concentratio... |
ORPHA:48818 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... |
ORPHA:79234 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Coloboma... |
ORPHA:508498 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... |
OMIM:113000 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:300804 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Hirsutism, Radial deviation of finger, Postaxial hand polydactyly, Hep... |
OMIM:209900 |
Atelosteogenesis, Type Ii |
|
Bifid humerus, Talipes equinovarus, Flat acetabular roof, Hitchhiker thumb, Pulmonary hypoplasia,... |
OMIM:256050 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Lateral ventricle dilatation, 2-3 finger syndactyly, Toe syndactyly, Elb... |
ORPHA:1692 |
Leprechaunism |
|
Central hypothyroidism, Long penis, Recurrent infantile hypoglycemia, Hepatomegaly, Postnatal gro... |
ORPHA:508 |
49,Xxxxy Syndrome |
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Coxa valga, Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislocation, Cleft pal... |
ORPHA:96264 |
Microgastria-Limb Reduction Defect Syndrome |
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Aplastic clavicle, Truncus arteriosus, Abnormal finger morphology, Abnormality of the humerus, Ar... |
ORPHA:2538 |
Chops Syndrome |
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Patent ductus arteriosus, Patent foramen ovale, Aspiration pneumonia, Ventricular septal defect, ... |
OMIM:616368 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Coxa valga, Delayed eruption of teeth, Decreased testicular size, Taurodon... |
ORPHA:96263 |
Nephronophthisis 11 |
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Renal tubular atrophy, Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corticomedullary c... |
OMIM:613550 |
Cleft Palate, Deafness, And Oligodontia |
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Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia of primary teeth, No perm... |
OMIM:216300 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Short long bone, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs, Pancreatic f... |
OMIM:615503 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Lateral ventricle d... |
OMIM:618330 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Patent ductus arteriosus, Bilateral lung agenesis, Abnormal cardiac septum morphology, Coarctatio... |
OMIM:601612 |
Isolated Growth Hormone Deficiency, Type Ia |
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Severe short stature, Prolonged neonatal jaundice, Growth delay, Hypoglycemia |
OMIM:262400 |
Aicardi-Goutieres Syndrome 9 |
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Hypothyroidism, Hepatic fibrosis, Renal insufficiency, Recurrent urinary tract infections, Stage ... |
OMIM:619487 |
Hardikar Syndrome |
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Hypoplasia of the bladder, Cleft soft palate, Elevated hepatic transaminase, Portal inflammation,... |
OMIM:301068 |
X-Linked Intellectual Disability, Siderius Type |
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Decreased testicular size, Preaxial hand polydactyly, Large hands, Cryptorchidism |
ORPHA:85287 |
Acropectorovertebral Dysplasia |
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Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
Ivic Syndrome |
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Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
Cardiac-Urogenital Syndrome |
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Patent ductus arteriosus, 2-3 toe syndactyly, Cor triatrium sinister, Ventricular septal defect, ... |
OMIM:618280 |
Acromicric Dysplasia |
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Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, High palate, Solitary media... |
ORPHA:556955 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Hip contracture, Elbow flexion contracture, Internally rotated shoulders, Camptodactyly, Pulmonar... |
OMIM:617468 |
Cranioectodermal Dysplasia 4 |
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Sagittal craniosynostosis, Cutaneous finger syndactyly, Stage 5 chronic kidney disease, Hip dyspl... |
OMIM:614378 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Genu valgum, Sensorineural hearing impairment, Short femoral neck, Slender long bones with narrow... |
OMIM:608154 |
Neurooculocardiogenitourinary Syndrome |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coloboma, Atrial septa... |
OMIM:618652 |
Feingold Syndrome 2 |
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2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... |
OMIM:614326 |
Tarsal-Carpal Coalition Syndrome |
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Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Hearing abnormality, Shor... |
OMIM:186570 |
Talo-Patello-Scaphoid Osteolysis |
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Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... |
ORPHA:50809 |
Mesomelia-Synostoses Syndrome |
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Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral frenulum morphology,... |
ORPHA:2496 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Conductive hearing impairment, Bifid tongue, Micrognathia, T... |
ORPHA:2751 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver dis... |
OMIM:214900 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Larsen-Like Syndrome |
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Dental malocclusion, Conductive hearing impairment, Joint dislocation, Wide anterior fontanel, Cl... |
OMIM:608545 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hydrocephalus, Atrial se... |
ORPHA:96170 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Short metacarpal, Deep philtrum, Bilateral sensorineural hearing impairment, Microdon... |
OMIM:605282 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
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Bilateral conductive hearing impairment, Oligodontia of primary teeth, Abnormality of the ankle, ... |
ORPHA:2010 |
Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Small hand, Esophageal atresia, Wide mouth, Bifid uvula, Prominen... |
OMIM:618779 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
Bohring-Opitz Syndrome |
|
Tapered finger, Micrognathia, Camptodactyly, Supernumerary nipple, Overlapping toe, Dislocated ra... |
OMIM:605039 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:615996 |
Meier-Gorlin Syndrome 5 |
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Small earlobe, Patellar aplasia, Long philtrum, Microtia, Slender long bone, Micrognathia, Clinod... |
OMIM:613805 |
Nephronophthisis 9 |
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Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Dubin-Johnson Syndrome |
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Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... |
ORPHA:234 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ... |
OMIM:617974 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Acromesomelic Dysplasia 2B |
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Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ... |
OMIM:228900 |
Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Metaphyseal irregularity, Oral ulcer, Decreased response to growth hormone... |
ORPHA:811 |
Peroxisome Biogenesis Disorder 1B |
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Hepatic fibrosis, Cirrhosis, Epiphyseal stippling, Renal cyst, Hepatomegaly, Hyperoxaluria |
OMIM:601539 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, D... |
OMIM:616828 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Hypoplastic ilia, Ventricular septal defect, Hypoplasia of the radius, Pulmonary hypoplasia, Synd... |
OMIM:617895 |
Syndactyly, Type V |
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Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Abnormality of iron homeostasis, Hepatoblastoma, Gastri... |
ORPHA:84064 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Ventricular septal defect, Foot oligodactyly, Anterior encephalocele, Coloboma, Short femur, Holo... |
OMIM:601357 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Patellar hypoplasia, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocar... |
ORPHA:2257 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Coxa valga, Truncus arteriosus, Ventricular septal defect, Recurrent res... |
ORPHA:261330 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Cleft palate, Hearing impairment, Genu valgum, Fle... |
ORPHA:2712 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Microdontia, Micrognathia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... |
ORPHA:363417 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... |
ORPHA:69663 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of fi... |
ORPHA:391646 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, High palat... |
ORPHA:1225 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, Knee flexion contracture, High palate, Ulnar de... |
OMIM:114300 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal defect, Preaxi... |
OMIM:616546 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Vesicoureteral reflux, Hypoplasi... |
OMIM:607323 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Bifid tongue, Micrognathia, Hip dislocation, Elbow dislocati... |
ORPHA:3107 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo... |
ORPHA:79301 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria, Abnormal biliary tract morphology |
ORPHA:293807 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Elsahy-Waters Syndrome |
|
Abnormality of the anus, Delayed eruption of teeth, Bifid uvula, Anal stenosis, Posteriorly rotat... |
OMIM:211380 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Hydrocephalus, Hip dislocation, Pulmonary hypoplasia, Postaxial foot polydactyly,... |
OMIM:241800 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epiphyseal stippling, Camptodactyly, Intrahepatic biliary dysgenesis, Hepatosplenomegaly, Metatar... |
OMIM:614866 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short sternum, Patent foramen ovale, Patent ductus arteriosus, Clinodactyly of the 4th toe, Ventr... |
OMIM:620113 |
H Syndrome |
|
Alopecia, Abnormal eyebrow morphology, Hallux valgus, Short stature, Decreased testicular size, E... |
ORPHA:168569 |
Alg3-Cdg |
|
Neural tube defect, Pulmonary hypoplasia, Coarctation of the descending aortic arch, Metaphyseal ... |
ORPHA:79321 |
Limb-Mammary Syndrome |
|
Hypohidrosis, Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyl... |
OMIM:603543 |
20Q11.2 Microdeletion Syndrome |
|
Camptodactyly, Adducted thumb, Brainstem dysplasia, Brachydactyly, Finger clinodactyly |
ORPHA:444051 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate |
OMIM:300484 |
Mucopolysaccharidosis, Type Ix |
|
Finger joint hypermobility, Bifid uvula, Submucous cleft hard palate, Synovitis, Recurrent otitis... |
OMIM:601492 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... |
OMIM:614613 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Postaxial polydactyly, Short long bone, Hypodontia, Aplasia of the epiglottis, Supe... |
OMIM:617088 |
Joubert Syndrome 15 |
|
Polydactyly, Molar tooth sign on MRI |
OMIM:614464 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Coloboma |
ORPHA:324416 |
Desmosterolosis |
|
Patent ductus arteriosus, Hydrocephalus, Metatarsus adductus, Anomalous pulmonary venous return, ... |
ORPHA:35107 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Conductive hearing impairment, Microdontia, Abnormality of the wrist, Cleft palate, Abnormality o... |
ORPHA:1307 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
Muenke Syndrome |
|
Dental malocclusion, Short middle phalanx of toe, High palate, Sensorineural hearing impairment, ... |
OMIM:602849 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Atrioventricular canal defect, Unbalanced atrioventricular c... |
OMIM:619534 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Holoprosencephaly, Situs inversus totalis, A... |
OMIM:202650 |
Chromosome 16Q22 Deletion Syndrome |
|
High palate, Sensorineural hearing impairment, Wide anterior fontanel, Hip dysplasia, Micrognathi... |
OMIM:614541 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Molar tooth sign on MRI, Postaxial foot polydactyly |
OMIM:615665 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, High palate, Hypoplasia of the thymus, Abnormality of the calc... |
ORPHA:40366 |
Atrial Septal Defect, Sinus Venosus Type |
|
Anomalous pulmonary venous return, Right ventricular dilatation, Stroke |
ORPHA:99105 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatocellular carcinoma, Chronic hepatic fail... |
ORPHA:171 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Mic... |
OMIM:258860 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Toe syndactyly, Mi... |
ORPHA:2710 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sagittal craniosynostosis, Plantar flexion contracture, Cutaneous syndactyly of toes, Temporomand... |
ORPHA:2872 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Supernumerary maxillary incisor, Macrotia, Screwdriver-shaped incisors, ... |
OMIM:302350 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decreased liver f... |
OMIM:617093 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Cutaneous finger syndactyly, Micrognathia, Hypospadias, Large fontanelles, Cry... |
OMIM:606851 |
Dpm1-Cdg |
|
Hepatic fibrosis, Long hallux, Elevated hepatic transaminase, Camptodactyly, Hepatosplenomegaly, ... |
ORPHA:79322 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... |
ORPHA:457395 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Type I ... |
ORPHA:276580 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Retrognathia, Arachnodactyly, Biliary hyperplasia, Low-set ears, Coronal c... |
ORPHA:83617 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Polycystic kidney dysplasia, Postaxial foot polydactyly, Syndactyly, Postaxial ... |
OMIM:619879 |
Cog7-Cdg |
|
Abnormal finger morphology, Abnormality of the kidney, Jaundice, Elevated hepatic transaminase, H... |
ORPHA:79333 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Sensorineural hearing impairment, Finger... |
ORPHA:3250 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... |
OMIM:609655 |
Dent Disease 2 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Proximal tubulopathy,... |
OMIM:300555 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Pulmonary hypoplasia |
OMIM:613124 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... |
ORPHA:276575 |
Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
Familial Thyroid Dyshormonogenesis |
|
Delayed cranial suture closure, Thyroid defect in oxidation and organification of iodide, Increas... |
ORPHA:95716 |
Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Coxa valga, Micrognathia, Elbow dislocation, Everte... |
ORPHA:800 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Macrotia, Short femoral neck, Delayed ossification of carpal bones, Brachydactyly, Posteriorly ro... |
OMIM:618392 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Clinodactyly of the 5th finger, Renal cyst, Glossopt... |
ORPHA:2031 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Bilateral conductive hearing impairment, Tapered finger, Hip contractur... |
ORPHA:488642 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
Hennekam Syndrome |
|
Camptodactyly of finger, Retrognathia, Conductive hearing impairment, Finger syndactyly, Delayed ... |
ORPHA:2136 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Long toe, Slender finger, ... |
OMIM:613355 |
Idiopathic Congenital Hypothyroidism |
|
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... |
ORPHA:95717 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Micrognathia, Gingival fibromat... |
ORPHA:1832 |
Hallermann-Streiff Syndrome |
|
Dental malocclusion, Narrow palate, High palate, Natal tooth, Selective tooth agenesis, Spina bif... |
OMIM:234100 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Genu valgum, Adrena... |
ORPHA:231226 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia |
ORPHA:3316 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Trisomy 17P |
|
High anterior hairline, High palate, Tapered finger, Short stature, Broad eyebrow, Polycystic kid... |
ORPHA:261290 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select... |
OMIM:305620 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Short forearm, Short femoral neck, Ventricular septal defect, Clinodact... |
ORPHA:1708 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Chime Syndrome |
|
Hydronephrosis, Aplastic clavicle, Short foot, Abnormality of the dentition, Microdontia, Abnorma... |
ORPHA:3474 |
D-Bifunctional Protein Deficiency |
|
High palate, Increased circulating very long-chain fatty acid concentration, Elevated hepatic tra... |
OMIM:261515 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis |
ORPHA:2414 |
Eiken Syndrome |
|
Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti... |
OMIM:600002 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
Desmosterolosis |
|
Patent ductus arteriosus, Joint contracture of the hand, Hydrocephalus, Partial agenesis of the c... |
OMIM:602398 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Coloboma, Hydrocephalus, Left ventricular hypertrophy, Hypoplasia of... |
OMIM:613153 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Abnormal hand morphology, Ventricular septal defect |
OMIM:122850 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Cranioectodermal Dysplasia 2 |
|
Polydactyly, Biliary cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Postaxial hand polyd... |
OMIM:613610 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Genu valgum, Tapered finger, Macrodontia of permanent maxillary central inci... |
OMIM:616202 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Conductive hearing impairment, Hypoplastic ischia, Hypospadias, Cryptorchidism, Low-... |
OMIM:616910 |
Timothy Syndrome |
|
Bronchitis, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Syndactyly... |
OMIM:601005 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal antihelix morphology, Finger syndactyly, Long philtrum, Submuco... |
ORPHA:178303 |
Cranioectodermal Dysplasia 1 |
|
Stage 1 chronic kidney disease, Malformation of the hepatic ductal plate, Radial deviation of fin... |
OMIM:218330 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Cholestasis, Cholestatic live... |
OMIM:610205 |
Qazi-Markouizos Syndrome |
|
Tapered finger, Hypoplasia of teeth, Delayed ossification of carpal bones, Cryptorchidism, Open m... |
ORPHA:3010 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Jaundice, Spleni... |
ORPHA:400 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly |
OMIM:235750 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Hypoplasia of the cochlea, Microdontia, Bifid uvula, Cholesteatoma... |
OMIM:113650 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce... |
ORPHA:186 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, Coxa valga, High palate, Natal tooth, Wide anteri... |
OMIM:269300 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular dilatation, Unroofed coronary sinus, Transient ischemic attack, Anomalous origi... |
ORPHA:99104 |
Arthrogryposis, Distal, Type 11 |
|
Talipes equinovarus, Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, ... |
OMIM:620019 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed ossification of carpal bones... |
OMIM:105835 |
Craniosynostosis And Dental Anomalies |
|
Short phalanx of finger, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Hal... |
OMIM:614188 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic ... |
OMIM:619991 |
Sonoda Syndrome |
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High axial triradius, Ventricular septal defect |
OMIM:270460 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Flat acetab... |
OMIM:617102 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Abnormal carpal morphology, Short middle phalanx of the 5th finger, Microtia, Hip dysplasia, Clin... |
ORPHA:319675 |
Adams-Oliver Syndrome |
|
Abnormality of the upper limb, Encephalocele, Finger syndactyly, Pulmonary artery atresia, Arteri... |
ORPHA:974 |
Joubert Syndrome 33 |
|
Syndactyly, Molar tooth sign on MRI |
OMIM:617767 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... |
ORPHA:2237 |
Gillespie Syndrome |
|
Truncus arteriosus, Aniridia |
OMIM:206700 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Long philtrum, Gingival overgrowth, Micrognathia, Clinodactyly, Camptodactyly,... |
OMIM:618529 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Fat malabsorption, Elevated hepatic transaminase, Biliary tract abnorma... |
ORPHA:79168 |
Suleiman-El-Hattab Syndrome |
|
Polydactyly, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly, Pro... |
OMIM:618950 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Roberts Syndrome |
|
Wrist flexion contracture, Long penis, Phocomelia, Radial deviation of finger, Cleft palate, Spar... |
ORPHA:3103 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Micrognathia, Supernumerary tooth, ... |
ORPHA:3145 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Genu varum, Genu valgum, Metaphyseal irregularity, Radial head subluxation, Mult... |
ORPHA:93360 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Short 5th finger, Ventricular septal defect, Congenital lobar overinflation, ... |
OMIM:600987 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot polydactyly, R... |
OMIM:615994 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ... |
OMIM:132400 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Coloboma, Bullet-shaped distal phalanx of the hallux, To... |
ORPHA:1617 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Hallermann-Streiff Syndrome |
|
Hypothyroidism, Small hand, Natal tooth, High, narrow palate, Micrognathia, Clinodactyly of the 5... |
ORPHA:2108 |
Short-Rib Thoracic Dysplasia 12 |
|
Patent ductus arteriosus, Short toe, Patent foramen ovale, Neonatal death, Atelectasis, Short foo... |
OMIM:269860 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Broad femoral neck, Dental malocclusion, Tapere... |
OMIM:612350 |
Eec Syndrome |
|
Hypoplasia of the thymus, Anterior hypopituitarism, Toe syndactyly, Microdontia, Taurodontia, Too... |
ORPHA:1896 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Elevated hepatic transaminase, Ach... |
ORPHA:65682 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Finger syndactyly, Microtia, Micrognathia, Abnormal metacarpal morphology,... |
ORPHA:3429 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Wormian bones, Brachydactyly |
ORPHA:2787 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Abnormality of thyroid physiology, Stage 5 chronic kidney disease, M... |
ORPHA:1830 |
Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Molar tooth sign on MRI, Clinodactyly, Epiphyseal dyspl... |
OMIM:607131 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Asplenia, Hypoplasia of the bladder, Malformation of the hepatic ductal ... |
OMIM:249000 |
Silver-Russell Syndrome 1 |
|
Delayed cranial suture closure, Decreased response to growth hormone stimulation test, Short midd... |
OMIM:180860 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, Unilateral cryptorchidism, 2-3 toe cutane... |
OMIM:206920 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Partial Deletion Of The Short Arm Of Chromosome 7 |
|
Aplasia of the distal phalanx of the 5th finger, Contracture of thumb, Patent ductus arteriosus a... |
ORPHA:261911 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Progressive hearing impairment, Hyperextensibility of the... |
OMIM:613849 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... |
ORPHA:99125 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coloboma, Bicuspid aor... |
ORPHA:329224 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Conductive hearing impairme... |
OMIM:102500 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Beta-Thalassemia Major |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Genu valgum, Adrena... |
ORPHA:231214 |
Smith-Mccort Dysplasia 2 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Metaphyseal irregularity, Mandibular pr... |
OMIM:615222 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Encephalocele, Myelomeningocele, Abnormal cardiac septum morphology, Fla... |
ORPHA:90652 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Cleft upper lip, Conductive hearing impairment, Mandibular prognathia, Delayed er... |
ORPHA:819 |
Argininosuccinic Aciduria |
|
Dry hair, Hepatic fibrosis, Aminoaciduria, Trichorrhexis nodosa, Brittle hair, Episodic ammonia i... |
OMIM:207900 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal... |
OMIM:157900 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Cleft lo... |
OMIM:268305 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Hypothyroidism, Short 5th finger, Microphallus, Micrognathia, Clinodactyly of the 5t... |
ORPHA:397590 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hepa... |
OMIM:605479 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Hypothyroidism, Delayed eruption of teeth, Adrenal insufficiency, Bifid uvula... |
OMIM:300166 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Synophrys, Hepatosplenomegaly, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:606003 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, 2-3 toe syndactyly, Metaphyseal irregularity, High palate, Ulnar deviat... |
OMIM:618162 |
Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Hypoplastic ilia, Short long bone, Hydrocephalus, Pulmonary hypoplasia,... |
OMIM:187600 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Conductive hearing impairment, Coxa valga, Epiphyseal dyspl... |
OMIM:132450 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentrati... |
OMIM:300972 |
Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Coxa valga, Ventricular septal defect, Pulmonary hypoplasia, Atrial sep... |
OMIM:608149 |
Shwachman-Diamond Syndrome 2 |
|
Genu varum, Metaphyseal irregularity, High palate, Steatorrhea, Hepatomegaly, Exocrine pancreatic... |
OMIM:617941 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Abnormal fingertip morphology, Shor... |
ORPHA:79106 |
Ruvalcaba Syndrome |
|
Short phalanx of finger, Small hand, Short metacarpal, Dental crowding, Cryptorchidism, Limited e... |
OMIM:180870 |
Joubert Syndrome 27 |
|
Polydactyly, Molar tooth sign on MRI |
OMIM:617120 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Flared iliac wing, Camptodactyly, Hip dislocation, Hepatomegaly, Spa... |
OMIM:252500 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... |
OMIM:609616 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Vesicoureteral reflux, Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating crea... |
OMIM:615895 |
Acrorenal-Mandibular Syndrome |
|
Narrow palate, High palate, Toe syndactyly, Foot polydactyly, Polycystic kidney dysplasia, Absent... |
OMIM:200980 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Small hand, Calvarial osteosclerosis, Stenosis of the medullary c... |
ORPHA:93324 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Microdontia, Micrognathia, Broad hallux, Slender finger, Cle... |
ORPHA:251028 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Agenesis ... |
ORPHA:199306 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, High palate, Long philtrum, Abnormality of cranial sutures,... |
ORPHA:163649 |
Gcgr-Related Hyperglucagonemia |
|
Increased glucagon level, Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract mor... |
ORPHA:438274 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hepatocellular carcinoma, Hepatomegaly, Elevated circulating alanine aminotran... |
ORPHA:2088 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Tapered finger, Encephalocele, Pulmonic stenosis, Anencephaly, Agenesis... |
OMIM:619148 |
Joubert Syndrome 32 |
|
Postaxial hand polydactyly, Molar tooth sign on MRI, Postaxial foot polydactyly |
OMIM:617757 |
Silver-Russell Syndrome |
|
Delayed cranial suture closure, Hyperhidrosis, Abnormality of the calcaneus, Decreased testicular... |
ORPHA:813 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, Small hand, Ventricular septal defect, Hip dysplasia, 1-2 toe syndactyly, Clinoda... |
OMIM:301044 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, High palate, Typ... |
OMIM:618500 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic pubic bone, Hypoplastic ilia, Encephalocele, Short long bone, Hydrocephalus, Clubbing... |
ORPHA:1865 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Short middle phalanx of the 5th finger, Toe syndactyly, No permanent ... |
ORPHA:46627 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Broad thumb, Abnormal heart morphology, Brachydactyly |
OMIM:300978 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Coloboma, Clinodactyly, Transposition of the great arteries, Talipes equino... |
OMIM:616789 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... |
OMIM:615777 |
Mednik Syndrome |
|
Hepatic fibrosis, Cirrhosis, Jejunal atresia, Volvulus, Microcolon, Increased circulating very lo... |
OMIM:609313 |
Bardet-Biedl Syndrome 6 |
|
Renal cyst, Syndactyly, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Joubert Syndrome With Hepatic Defect |
|
Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Renal insufficiency, Neopl... |
ORPHA:1454 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Bifid tongue, Micrognathia, Hip dislocation, Tooth agenesis, Postaxial hand p... |
ORPHA:818 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overfolded helix, Retrognathia, High palate, Tapered finger, Long philtrum, Micrognathia, Anal at... |
OMIM:613792 |
Apert Syndrome |
|
Delayed cranial suture closure, Humeroradial synostosis, Ectopic anus, Delayed eruption of teeth,... |
OMIM:101200 |
Tarp Syndrome |
|
Short sternum, High palate, Low-set ears, Glossoptosis, Tongue nodules, Hypoplasia of the radius,... |
OMIM:311900 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou... |
ORPHA:2521 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Fractured radius, Ventricular septal defect, Pulmonary hypoplasia, Short femur, Adducted thumb, H... |
OMIM:616897 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Renal interstitial immunoglobul... |
ORPHA:449395 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Short long bone, Micrognathia, Delayed ossification of carpal bones, Flar... |
ORPHA:93346 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Hyperammonemia, Hepatomegaly |
ORPHA:35 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Single transverse palmar crease, Clinodactyly of the 5th finger, Ventri... |
OMIM:619717 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Short stature, Increased hepatic glycogen content, Hypoglycemia, Growth delay, Hep... |
OMIM:261750 |
Trisomy 8P |
|
Conductive hearing impairment, Clinodactyly of the 5th toe, Bifid uvula, Overlapping toe, Thin ve... |
ORPHA:264450 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis |
OMIM:618021 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon, Hand polydactyly, Unilateral renal agenesis |
OMIM:235740 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Abnormal urine potassium concentration, Hepatic fibrosis, Hepatic failure, ... |
ORPHA:275761 |
Distal Tetrasomy 15Q |
|
Nephroblastoma, Arachnodactyly, High palate, Abnormality of the kidney, Polycystic kidney dysplas... |
ORPHA:314588 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Encephalocele, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Atrial s... |
ORPHA:93274 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Stage 5 chronic kidney dis... |
OMIM:166300 |
Endocrine-Cerebroosteodysplasia |
|
Microphallus, Fibular bowing, Enlarged kidney, Ulnar deviation of the hand, Tibial bowing, Hitchh... |
OMIM:612651 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Pulmonary edema, Pericardial effusion, Pulmonary capillary hemangiomatosis, Clubbing ... |
ORPHA:199241 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Cryptorchidism, Brachydactyly, Nephrocalcinosis, Postaxial polydactyly |
OMIM:615633 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, Camptodactyly, At... |
OMIM:614262 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Agenesis of corpus callosum |
OMIM:274270 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Decreased liver function, Renal cyst, Elevated hepatic transaminase, Multiple renal cysts |
OMIM:614883 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft lip, Conductive hearing impairment, Bilateral ... |
ORPHA:199302 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the upper limb, Clinodactyly of the 5th finger, Atrial septal defect, Oligodactyly... |
ORPHA:521308 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Joubert Syndrome 37 |
|
High palate, Decreased testicular size, Prominent metopic ridge, Posteriorly rotated ears, Hepato... |
OMIM:619185 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Short long bone, Pulmonary hypoplasia, Femoral bowing, Adducted thumb,... |
OMIM:617022 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Foot polydactyly, Postaxial hand polydactyly, Renal agenesis, Aganglionic megacolon |
ORPHA:2155 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Ventricular septal defect, A... |
OMIM:619189 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Short philtrum, Single transverse palmar crease, Downturned corn... |
OMIM:601224 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Hepatic fibrosis, Tapered finger, Small hand, Hip dysplasia, Elevated hepatic tra... |
OMIM:620005 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly, Atrial septal defect |
OMIM:113301 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Clinodactyly, Syndactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Pulmonary hypoplasia |
OMIM:616733 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Sensorineural hearing impairment, Long philtrum, Microtia, Micrognathia, Clinodactyl... |
OMIM:301022 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hyp... |
ORPHA:2255 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Delayed closure of the anterior fontanelle, Epiphyseal stippling, Single transverse palmar crease... |
ORPHA:251009 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Hypoplastic helices, Finger syndactyly, Wide anterior fontanel, Clinodactyly, Thin u... |
ORPHA:313781 |
X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Pulmonic stenosis |
ORPHA:1131 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Esophageal stricture, Premature graying of hair, Short stature, Urethral strict... |
OMIM:613989 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Postaxial foot polydactyly, ... |
OMIM:615981 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Hypohidrosis, Conductive hearing impairment, Finger syndact... |
ORPHA:1071 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hepatomegaly, Hyperchol... |
OMIM:306000 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, B... |
OMIM:186500 |
Oculodentodigital Dysplasia |
|
Enamel hypoplasia, Cleft upper lip, Conductive hearing impairment, High palate, Short middle phal... |
OMIM:164200 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Camptodactyly, Atrial septal d... |
OMIM:300963 |
Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Large intestinal polyposis, Neonatal hypoglycemia, Hepatoblastoma, Elevated circu... |
ORPHA:116 |
Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Broad hallux, Postaxial hand polydactyly, Cleft palate, Posteriorly r... |
OMIM:615948 |
Buratti-Harel Syndrome |
|
High palate, Microtia, Velopharyngeal insufficiency, Bifid uvula, Clinodactyly of the 5th finger,... |
OMIM:619314 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Conductive hearing impairment, Hal... |
ORPHA:794 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Broad thumb, Brachydactyly, Short ... |
ORPHA:1278 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, Delayed cranial suture closure, Conductive hearing impairment, Low-set ears, Large ... |
ORPHA:2780 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Tapered finger, Microscopic hematuria, Supernumerary tooth, Thin vermilion border, Proteinuria, A... |
ORPHA:86818 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Umbilical hernia, Finger syndactyly, Abnormal cardiac septum morphology, Aplasia of the distal ph... |
OMIM:308050 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Proximal tubulopathy, Hepatic fibrosis, Villous atrophy, Nephrotic syndrome, Elev... |
OMIM:212065 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Pulmonary hypoplasia, Trans... |
OMIM:313850 |
Three M Syndrome 2 |
|
Dental malocclusion, Short 5th finger, High palate, Long philtrum, Delayed eruption of teeth, Sle... |
OMIM:612921 |
Serkal Syndrome |
|
Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defect |
ORPHA:139466 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Macrotia, Tapered finger, Mandibular prognathia, Short philtrum, Thyroid hypoplasia, Prominent me... |
ORPHA:521445 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum mor... |
ORPHA:83473 |
Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
Hydrolethalus |
|
Retrognathia, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Submucous cleft hard pa... |
ORPHA:2189 |
Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, High palate, Tongue nodules, Renal hypoplasia/aplasia, Foot polydactyly, Bilate... |
ORPHA:2754 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Low-set ears, Aganglionic megacolon, Ankyloglossia, ... |
OMIM:174300 |
W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... |
ORPHA:2804 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperhidrosis, Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the a... |
ORPHA:970 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Intraalveolar phospholipid accumulation, Desquamative interstitial pneumonitis, Clubbing, Interlo... |
OMIM:265120 |
Temple-Baraitser Syndrome |
|
Long hallux, Atrial septal defect, Pseudoepiphysis of the thumb, Broad hallux, Adducted thumb, Br... |
OMIM:611816 |
Coffin-Siris Syndrome 6 |
|
Retrognathia, Conductive hearing impairment, Deep philtrum, Micrognathia, Clinodactyly, Short phi... |
OMIM:617808 |
Cantu Syndrome |
|
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... |
OMIM:239850 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Coxa valga, Ventricular septal defect, Pulmonary artery atresia, A... |
OMIM:301056 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Long philtrum, Micrognathia, Dental crowding, Thin upper lip vermilion, Downturned corners of mou... |
OMIM:615761 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea, Growth delay, Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... |
ORPHA:2299 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Im... |
OMIM:261680 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bifid tongue, Hypoplastic facial bones, Unicoronal synostosis, Cleft palate, Narrow ... |
OMIM:616300 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoplasia of penis, Hypoglycemia, Sandal gap, Cryptorchidism |
ORPHA:2022 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Verheij Syndrome |
|
Short 5th finger, Coloboma, Abnormal cardiac septum morphology, Clinodactyly, Hip dislocation |
OMIM:615583 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Elbow flexion contracture, Hip dislocation, Short femur, Elbow dislocation, Sparse eyelashes, Bif... |
OMIM:210710 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, High palate, Short stature, Recurrent urinary tract infections, Unconjugated hyperbili... |
OMIM:613658 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, B... |
ORPHA:2554 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Micrognathia, Broad hallux, Hearing impairment, Posteriorly rotated ears... |
ORPHA:439822 |
Pycnodysostosis |
|
Aplastic clavicle, Narrow palate, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Ab... |
OMIM:265800 |
Frontometaphyseal Dysplasia |
|
Short diaphyses, Wrist flexion contracture, Camptodactyly of finger, Short phalanx of finger, Con... |
ORPHA:1826 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Syndactyly, Short palm |
ORPHA:79094 |
Larsen Syndrome |
|
Conductive hearing impairment, Spatulate thumbs, Hip dislocation, Elbow dislocation, Spina bifida... |
OMIM:150250 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Persistence of primary teeth, High palate, Supernumerary tooth, Talipes equinovarus |
OMIM:619752 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Thick upper lip vermilion, Short palm, Delayed epiphyseal ossification, ... |
OMIM:611717 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Secundum atrial septal defect, Pulmonary hypoplas... |
OMIM:616866 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septa... |
OMIM:618974 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Hepatomegaly, Cryptorchidism, Neonatal death |
OMIM:613730 |
Momo Syndrome |
|
Short sternum, Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick ... |
OMIM:157980 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Abnor... |
ORPHA:1166 |
Mental Retardation Syndrome, Belgian Type |
|
Coloboma |
OMIM:249599 |
Stevenson-Carey Syndrome |
|
Coloboma, Joint contracture of the hand, Left superior vena cava draining to coronary sinus, Hip ... |
OMIM:611961 |
15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Small hand, Coloboma, Clinodactyly, Abnormal thumb morphology, Abnormal toe mor... |
ORPHA:94065 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Scapular wing... |
OMIM:170390 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Renal dysplasia, Anal atresia, Hypertrophy of the urinary bladder, Ren... |
OMIM:601389 |
Autosomal Erythropoietic Protoporphyria |
|
Decreased liver function, Abnormal circulating porphyrin concentration, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia |
OMIM:601163 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Finger syndactyly,... |
ORPHA:246 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Mandibular prognathia, Hallux valgus, Long philtrum, Swan neck-like deformities of the fingers, C... |
OMIM:619880 |
Stickler Syndrome, Type Ii |
|
Sensorineural hearing impairment, Pierre-Robin sequence, Arthropathy, Micrognathia, Bifid uvula, ... |
OMIM:604841 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Small hand, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal ... |
OMIM:145420 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Premature osteoarthritis, Abnorma... |
ORPHA:93307 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Adenoma sebaceum, Delayed eruption of teeth, Abnormality of dental morphology, Supernumerary toot... |
ORPHA:3353 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Wide mouth, Micrognathia, Short... |
ORPHA:163966 |
Genitopatellar Syndrome |
|
Hip contracture, Hypoplastic ilia, Patellar aplasia, Agenesis of corpus callosum, Radioulnar syno... |
ORPHA:85201 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Metopic suture patent to nasal root, High palate, Broad secondary alveolar ridge, Multiple suture... |
ORPHA:3369 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Cholelithiasis |
OMIM:232800 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Orofaciodigital Syndrome Type 14 |
|
Lobulated tongue, Deviation of the hallux, Bifid tongue, Bilateral cryptorchidism, Aplasia of the... |
ORPHA:434179 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Impaired sensitivity to thyr... |
OMIM:614450 |
Arthrogryposis, Distal, Type 5D |
|
Limited elbow movement, Tongue atrophy, Micrognathia, Elbow flexion contracture, Camptodactyly, L... |
OMIM:615065 |
Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, 3-4 finger cutaneous syndactyly, Pulmonary hypoplasia, Holoprosencepha... |
OMIM:612530 |
Distal Monosomy 10Q |
|
Tapered finger, Micrognathia, Hip dislocation, Morphological abnormality of the vestibule of the ... |
ORPHA:96148 |
9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Hip dysplasia, Downturned corners of mouth, Abnormal tongue morphology, Cryptorchidi... |
ORPHA:531151 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Sandal gap, Atrial septal defect |
OMIM:300887 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Ventricular se... |
OMIM:115197 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Short 5th metacarpal, Sensorineural hearing impairment, Pierre-Robin seq... |
OMIM:215150 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Toe clinodactyly, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Intestinal atresia, Type I diabetes mell... |
ORPHA:436252 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Supernumerary tooth, Diastema, Agenesis of molar, Bicoronal synostosis, Hypospadias,... |
OMIM:619718 |
Congenital Vertical Talus |
|
Myelomeningocele, Equinus calcaneus, Lower extremity joint dislocation, Rocker bottom foot |
ORPHA:178382 |
Feingold Syndrome 1 |
|
Asplenia, 2-3 toe syndactyly, Micrognathia, Everted lower lip vermilion, Hearing impairment, Post... |
OMIM:164280 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa... |
OMIM:609166 |
Momo Syndrome |
|
Short sternum, Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Delaye... |
ORPHA:2563 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Wrist swelling, Camptodactyly of finger, Slender long bone, Micrognathia, Abnormality of the wris... |
ORPHA:2774 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Aortic arch aneurysm, Common carotid artery aneurysm, Vascular dilatati... |
OMIM:613834 |
Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Ventricular septal defect |
ORPHA:3434 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Epiphyseal streaking, Delayed closure of the anterior fontanelle, Clin... |
OMIM:604922 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Abnormal aort... |
ORPHA:2306 |
Grant Syndrome |
|
Joint dislocation, Micrognathia, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone mo... |
ORPHA:2097 |
Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Intestinal obstruction, Genu valgum, Abnormality of the k... |
ORPHA:321 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Finger syndactyly, Ectopic a... |
ORPHA:2473 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
Oligomeganephronia |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Pulmonary venous occlusion, Branchial cyst, ... |
ORPHA:2260 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Elbow flexion contracture, Flared iliac wing, Flat acetabular roof, Halberd-shaped pel... |
OMIM:184252 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Split han... |
OMIM:252600 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Biliary cirrhosis, Short 4th metacarpal, Elevated hepatic transaminase, Hepatic steatosis, Increa... |
ORPHA:99413 |
Anauxetic Dysplasia 1 |
|
Short toe, Mandibular prognathia, Hip contracture, Short foot, Hypoplastic ilia, Microdontia, Elb... |
OMIM:607095 |
Mosaic Monosomy X |
|
Biliary cirrhosis, Short 4th metacarpal, Elevated hepatic transaminase, Hepatic steatosis, Increa... |
ORPHA:99228 |
Monosomy X |
|
Biliary cirrhosis, Short 4th metacarpal, Elevated hepatic transaminase, Hepatic steatosis, Increa... |
ORPHA:99226 |
Turner Syndrome |
|
Biliary cirrhosis, Short 4th metacarpal, Elevated hepatic transaminase, Hepatic steatosis, Increa... |
ORPHA:881 |
Trisomy 4P |
|
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Hypospadias, Cryptorchidism |
ORPHA:1738 |
Supravalvular Aortic Stenosis |
|
Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery stenosis |
OMIM:185500 |
Limb-Mammary Syndrome |
|
Hypohidrosis, Aplasia of the ovary, Toe syndactyly, Hypodontia, Absent nipple, 3-4 finger cutaneo... |
ORPHA:69085 |
Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida o... |
OMIM:201000 |
Van Maldergem Syndrome 2 |
|
Hip subluxation, Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Microg... |
OMIM:615546 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Preaxial hand polydactyly, Interphalangeal joint contracture of finger |
OMIM:606242 |
Trisomy X |
|
Renal hypoplasia/aplasia, Hip dysplasia, Multicystic kidney dysplasia, Clinodactyly of the 5th fi... |
ORPHA:3375 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, 3-Methylglutaconic aciduria, Jaundice, Elevate... |
OMIM:203700 |
Pycnodysostosis |
|
Delayed cranial suture closure, Micrognathia, Hepatosplenomegaly, Hypoplastic iliac wing, Carious... |
ORPHA:763 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Bifid uvula, Hepatomegaly, Narrow greater sciatic notch, Talipes equin... |
ORPHA:79328 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Abnormality of the elbow, Recurrent respiratory infections, Atrial sept... |
ORPHA:1842 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Cenani-Lenz Syndrome |
|
Hypothyroidism, Toe syndactyly, Hip dislocation, Elbow dislocation, Hearing impairment, Abnormal ... |
ORPHA:3258 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs, Acromelia of the lower limbs, Abnormal cardiac septum morphology... |
ORPHA:1027 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal d... |
ORPHA:75389 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Cone-shaped epiphysis, Impaired gluc... |
OMIM:617253 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... |
OMIM:614954 |
3Mc Syndrome 3 |
|
Clinodactyly, Radioulnar synostosis, Penoscrotal hypospadias, Preaxial polydactyly, Horseshoe kid... |
OMIM:248340 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia, Recurrent respirato... |
OMIM:616777 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Elevated hep... |
OMIM:255120 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Micrognathia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Macrotia, High palate, Abnormal tongue physiology, Wide mouth, Hypospadias, Narrow mouth, Antever... |
ORPHA:544254 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Patent foramen ovale, Left aortic arch with cervical origin of the right subclav... |
OMIM:212093 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Proximal tubulopathy, Hypohidrosis, Hip dysplasia, Elevated hepatic transaminase, Unil... |
OMIM:614576 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Ventricular septal defect |
ORPHA:2515 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, 2-3 toe syndactyly, Aortopulmonary window, Finger syndactyly, Ventricular s... |
OMIM:620025 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Patellar dislocation, Micrognathia... |
OMIM:147891 |
Triploidy |
|
Meningocele, Non-midline cleft lip, Abnormality of the pancreas, Finger syndactyly, Wide mouth, A... |
ORPHA:3376 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II |
OMIM:224100 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Joubert Syndrome 1 |
|
Hepatic fibrosis, Clinodactyly, Macroglossia, Postaxial foot polydactyly, Renal cyst, Nephropathy... |
OMIM:213300 |
Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Micrognathia, Bifid uvula, Fibular bowing, Enlarged joints, Cleft palate... |
ORPHA:1427 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology |
ORPHA:3346 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Coloboma, Abnormal brainstem morphology, Hydrocephalus, Olivopontoce... |
ORPHA:370959 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
2-3 finger syndactyly, Flared iliac wing, Postaxial hand polydactyly, Narrow greater sciatic notc... |
OMIM:312870 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involvi... |
ORPHA:88630 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eruption of teeth,... |
OMIM:259600 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Molar tooth sign on MRI, Joint contracture of the... |
OMIM:619562 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
Familial Adenomatous Polyposis |
|
Hypothyroidism, Adenocarcinoma of the small intestine, Cholangiocarcinoma, Hepatoblastoma, Pancre... |
ORPHA:733 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Schilbach-Rott Syndrome |
|
Microtia, Micrognathia, Bifid uvula, 3-4 finger cutaneous syndactyly, Submucous cleft hard palate... |
OMIM:164220 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Hepatic steatosis, Renal cyst, Renal hypoplasia, Hepatom... |
OMIM:614922 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic t... |
OMIM:616026 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Neu-Laxova Syndrome 1 |
|
Toe syndactyly, Camptodactyly, Pulmonary hypoplasia, Radial deviation of finger, Rocker bottom fo... |
OMIM:256520 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Retrognathia, Arachnodactyly, Macrotia, High palate, Sensorineural hearing impairment, Joint cont... |
OMIM:612513 |
Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... |
OMIM:610797 |
Pyruvate Carboxylase Deficiency |
|
Hyperalaninemia, Proximal renal tubular acidosis, Hypoglycemia, Increased serum pyruvate, Hepatom... |
OMIM:266150 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cone-shaped epiphyses of the distal phalanges of the hand, Toe syndactyly, Elevated hepatic trans... |
OMIM:618958 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Elbow dislocation, Knee dislo... |
ORPHA:536532 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hypoplastic ilia, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Atria... |
ORPHA:1860 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormality of the pulmonary artery, Atrial ... |
ORPHA:290 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short phalanx of finger, Retrognathia, Abnormal hand morphology, Decreased response to growth hor... |
OMIM:300845 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Wrist flexion contracture, Abnormal finger morphology, Hip dysplasia, Radioulnar synostosis, Atri... |
ORPHA:436003 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... |
OMIM:134780 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... |
OMIM:609583 |
Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle... |
OMIM:185800 |
Chromosome 15Q14 Deletion Syndrome |
|
Recurrent viral upper respiratory tract infections, Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Preaxial f... |
ORPHA:1540 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Encephalocele, Joint contracture of the hand, Short long b... |
OMIM:224400 |
Orofaciodigital Syndrome Vi |
|
Conductive hearing impairment, Toe syndactyly, Micrognathia, Short femur, Radial deviation of fin... |
OMIM:277170 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Recurrent otitis... |
OMIM:169400 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic facial bones, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipe... |
OMIM:223800 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Truncus arteriosus, Retinal arteriolar tortuosity, Abnormal aortic arch morphology, ... |
ORPHA:567 |
Achondrogenesis Type 2 |
|
Hypoplastic ilia, Short long bone, Delayed proximal femoral epiphyseal ossification, Pulmonary hy... |
ORPHA:93296 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Short femur, Spina bifida oc... |
ORPHA:508488 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Short long bone, Pulmonary hypoplasia, Occipital encephalocele, Neonatal death, Bowing of the lon... |
OMIM:224410 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Adducted thumb, Single transverse palmar crease, Brachydactyly, Low-set ears, N... |
OMIM:620062 |
Congenital Myopathy 11 |
|
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:619967 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... |
ORPHA:3121 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, R... |
OMIM:615986 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gallbl... |
ORPHA:2869 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Polydactyly, Premature graying of hair, Long penis, Hi... |
ORPHA:769 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... |
OMIM:605814 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
Rothmund-Thomson Syndrome |
|
Broad ulna, Delayed eruption of teeth, Selective tooth agenesis, Microdontia, Metaphyseal striati... |
ORPHA:2909 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Stapes ankylosis, Short femoral neck, Coxa vara, Long philtrum, Velopharyngea... |
OMIM:614701 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Pulmonary hypoplasia, Ventricular septal defect, Bilateral lung agenesis |
OMIM:611812 |
Faciocardiomelic Syndrome |
|
Polydactyly, Hypoplastic pelvis, Common atrium, Slender long bone |
OMIM:612731 |
Keutel Syndrome |
|
Ventricular septal defect, Recurrent sinusitis, Pulmonary artery stenosis, Short distal phalanx o... |
ORPHA:85202 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly, Renal dysplasia |
OMIM:615985 |
3P25.3 Microdeletion Syndrome |
|
Knee flexion contracture, Mandibular prognathia, Tapered finger, Sensorineural hearing impairment... |
ORPHA:435638 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Genu valgum, Hypoplastic acetabulae, Broad femoral neck, Coxa vara, Wide p... |
ORPHA:239 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Long philtrum, Deep philtrum, Micrognathia, Bifid uvula, Abnormal oral frenul... |
ORPHA:404440 |
Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Ventricular hypertrophy, Patent ductus arteriosus, Ventricular septal defect... |
OMIM:612561 |
Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Abnormal liver lobulation, Rocker bottom foot, High palate, Re... |
ORPHA:99776 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Increased circulating very long-chain fatty acid concentration, Epiphyseal stippling,... |
OMIM:614862 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Dextrocardia, Abnormal tricuspid valve morphology |
ORPHA:1759 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Conductive hearing impairment, Microtia, third degree, Micrognathia, Bif... |
ORPHA:2753 |
Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Radial bowing, Pulmonary hypoplasia, Lower limb undergrowth, Abnormality of ... |
ORPHA:3035 |
Medullary Thyroid Carcinoma |
|
Hyperhidrosis, Nodular goiter, Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver pare... |
ORPHA:1332 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Hypoplasia of the radius, Ulnar deviation of finger, Elbow disloc... |
ORPHA:2249 |
3C Syndrome |
|
Atrioventricular canal defect, Finger syndactyly, Ventricular septal defect, Abnormal mitral valv... |
ORPHA:7 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Duplication Of The Pituitary Gland |
|
Retrognathia, Encephalocele, Wide mouth, Abnormality of the tongue, Volvulus, Supernumerary tooth... |
ORPHA:314621 |
Solitary Bone Cyst |
|
Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the long bones, ... |
ORPHA:83468 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Short toe, Tapered finger, Hallux valgus, Coloboma,... |
OMIM:618659 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Enlarged kidney, Anhidrosis, Membranoproliferative glomerulonephritis, Increased b... |
ORPHA:251004 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Coronal craniosynostosis, Carpal synostosis, Short palm, Malar ... |
ORPHA:53271 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... |
OMIM:151210 |
Orofacial Cleft 15 |
|
Bilateral cleft lip, Agenesis of lateral incisor, Single transverse palmar crease, Bilateral clef... |
OMIM:616788 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Coloboma, Hydrocephalus, Intracranial hemo... |
OMIM:614424 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Elevated hepatic transamin... |
ORPHA:263455 |
Diaphanospondylodysostosis |
|
Cleft palate, Narrow pelvis bone, Multiple renal cysts |
ORPHA:66637 |
Marden-Walker Syndrome |
|
Joint contracture of the hand, Agenesis of corpus callosum, Camptodactyly, Radioulnar synostosis,... |
OMIM:248700 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Micrognathia, Dislocated radial head, Radial deviat... |
OMIM:268310 |
Tarp Syndrome |
|
Abnormal antihelix morphology, Micrognathia, Prominent antihelix, Alveolar ridge overgrowth, Larg... |
ORPHA:2886 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Tapered fing... |
ORPHA:251071 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Obtuse angle of mandi... |
ORPHA:2741 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Pseudoarthrosis, Slender long bone, Bowing of the long bones, Hearing ... |
OMIM:619795 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
Hyperparathyroidism, Transient Neonatal |
|
Short long bone, Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Short femur, Femoral b... |
OMIM:618188 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia, Pancreatitis |
OMIM:620137 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Toe syndactyly, Bifid uvula, Abnormal oral frenulum ... |
OMIM:200990 |
Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect... |
OMIM:264480 |
Septooptic Dysplasia |
|
Polydactyly, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:182230 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Upper limb undergrowth, Toe clinodactyly, Short foot, Wormian bones |
ORPHA:166277 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypogly... |
ORPHA:276152 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia, Short finger, Hypoplastic heart |
OMIM:312150 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Fat malabsorption, Jaundice, Elevated hepatic transaminase, Acholic s... |
OMIM:607765 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... |
ORPHA:1836 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Hypohidrosis, 2-3 toe syndactyly, High palate, Large hands, Abnormality of... |
OMIM:606232 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Widely patent coronal suture, Narrow grea... |
OMIM:228520 |
Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Limi... |
OMIM:277590 |
Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Cleft soft palate, Micrognathia, Elbow flexion contracture, Cleft ... |
OMIM:117650 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin... |
ORPHA:896 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Double outlet right ventricle, Clubbing of toes, Cl... |
ORPHA:3304 |
Lowry-Maclean Syndrome |
|
Midgut malrotation, Talon cusp, Retrognathia, Delayed eruption of primary teeth, Abnormality of t... |
ORPHA:2409 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Aplasia/Hypoplasia of the lungs, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:2725 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Vesicoureteral reflux, Hydronephrosis, Delayed c... |
ORPHA:2484 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Synostosis of carpal bones, Failure of eruption of permanent teeth... |
ORPHA:3238 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Hypothyroidism, Tapered finger, Hallux valgus, Cleft soft palate, Breast aplasia, Os... |
ORPHA:268261 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:617622 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Macroglossia, Hypoplasia of the maxilla, Abnormal palate ... |
ORPHA:1798 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Periportal fibrosi... |
OMIM:124000 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Lacticaciduria, Hepatic ste... |
ORPHA:699 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Optic disc coloboma, Tapered finger, Short foot, Finger syndactyly, Vent... |
ORPHA:251014 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Card... |
OMIM:620135 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short femoral neck, Short metacarpal, Microtia, Narrow pelvis bone, Carpal bone hypoplasia, Femor... |
OMIM:616723 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Metaphyseal irregularity, Bulging epiphyses, Delayed eruption of teeth, Tibial... |
OMIM:277440 |
Genitopalatocardiac Syndrome |
|
Renal cyst, Cleft palate, Hypospadias |
OMIM:231060 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Infantile sensorineural hearing impairment, Delayed eruption of teeth, Mi... |
ORPHA:798 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta, Anterior radial head dislocation, Hyperextensibility of the finger joi... |
OMIM:610967 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Patent ductus arteriosus, Tapered finger, Clinodactyly, Camptodactyly, Overlapping toe, Proximal ... |
ORPHA:487796 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Dyskeratosis Congenita |
|
Abnormal testis morphology, Neoplasm of the pancreas, Taurodontia, Hepatomegaly, Hearing impairme... |
ORPHA:1775 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Elbow flexion con... |
ORPHA:56304 |
Vacterl/Vater Association |
|
Abnormality of the pancreas, Multicystic kidney dysplasia, Preaxial hand polydactyly, Finger synd... |
ORPHA:887 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Sweeney-Cox Syndrome |
|
Asplenia, Micrognathia, 2-4 finger syndactyly, Uplifted earlobe, Bilateral talipes equinovarus, C... |
OMIM:617746 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Pulmonary hypoplasia, Ol... |
OMIM:251230 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Hallux valgus, Elbow flexion contracture, Flat capital femoral ... |
ORPHA:536471 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Micrognathia, Camptodac... |
OMIM:601390 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration, Cirrhosis... |
ORPHA:90003 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the gallbladder, Brachydactyly, Hypospadias, Abnorma... |
ORPHA:2075 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacolon, Anal atre... |
OMIM:236700 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Sm... |
ORPHA:364577 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Postaxial foot polydactyly |
OMIM:617119 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly, Clubbing |
ORPHA:79128 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Clinodactyly, Coarctatio... |
OMIM:618164 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Triphalangeal thumb, Vesicoureteral reflux, Macrotia, Small fontanelle, Micrognathia, Congenital ... |
ORPHA:3078 |
Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
Ogden Syndrome |
|
Metatarsus valgus, Broad hallux, Global glomerulosclerosis, Postnatal growth retardation, Narrow ... |
OMIM:300855 |
Farber Disease |
|
Short toe, Hepatic failure, Hepatic fibrosis, Abnormality of the elbow, Short stature, Short fing... |
ORPHA:333 |
Achondroplasia |
|
Genu varum, Short femoral neck, Radial bowing, Hydrocephalus, Ulnar bowing, Pulmonary hypoplasia,... |
OMIM:100800 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah... |
OMIM:235555 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Underdeveloped antitragus, Cleft soft palate, Abnormal preputium morphology, Short ... |
ORPHA:293725 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma |
OMIM:602499 |
Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Cirrhosis, Sagittal craniosynostosis, Widely spaced teeth, Stage 5 chronic ki... |
OMIM:614099 |
Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Tapered finger, Long philtrum, Macrodontia of permanent maxillary central in... |
ORPHA:444072 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Short stature, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic... |
OMIM:211600 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Increased urine alpha-ketoglutarate concentration, Decreased plasma carnitine, E... |
ORPHA:2394 |
Pseudoaminopterin Syndrome |
|
Hip subluxation, Asplenia, Short 4th metacarpal, Microdontia, Micrognathia, Clinodactyly of the 5... |
ORPHA:221120 |
Birt-Hogg-Dube Syndrome |
|
Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Renal neoplasm, Colon cancer |
OMIM:135150 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Pyloric stenosis, Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Splenomegaly, Hepatitis, Hemoglobinuria, Jaundice, Increased circulating ferritin concentration, ... |
OMIM:194380 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the liver, Short stature, Renal hypoplasia/aplasia, Anal atresia, Abnormal pelvic ... |
ORPHA:1834 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Increased level of hippuric acid in urine, Elevated plasma branched chain amino aci... |
OMIM:248600 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Micrognathia, Large posterior fontanelle, Cleft palate, Narrow greater sciatic notch... |
OMIM:617925 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Coxa valga, Delayed ossification of carpal bones, Anal atresia, Dislocated... |
OMIM:617425 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Spinal dysraphism, Ventricular septal defect, Hydrocephalus, Abnormal... |
ORPHA:1926 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Short stature, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltr... |
OMIM:618999 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Diabetes mellitus, Exocrine pancrea... |
OMIM:167800 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Short finger, Hypoplastic heart |
OMIM:253290 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Hyponatremia, Short stature, Beta 2-microglobulinuria, Glycosuria, Hyperka... |
ORPHA:97362 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly, Hydroureter, Cystic renal dysplasia, Postaxial foot polydactyly, Postaxial hand poly... |
OMIM:615989 |
Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Encephalocele, Spina bifida, Abnormality of the pulmonar... |
ORPHA:991 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Elevated hepatic transaminase, Neonatal hypoglycemia... |
ORPHA:445038 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Submucous cleft soft palate, Ever... |
OMIM:608670 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Fetal megacystis, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Cryptorchidism... |
ORPHA:73246 |
Myhre Syndrome |
|
Large iliac wing, Abnormal lip morphology, Bifid uvula, Abnormal metaphysis morphology, Cleft pal... |
ORPHA:2588 |
Schneckenbecken Dysplasia |
|
Umbilical hernia, Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of c... |
OMIM:269250 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... |
OMIM:617056 |
Jeune Syndrome |
|
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Abnormal pelvic girdle bone morphology, Postaxia... |
ORPHA:474 |
Abetalipoproteinemia |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Fat malabso... |
ORPHA:14 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Enlarged kidney, Deep palmar crease, Long eyelashes, Macroglossia, Hepatosple... |
ORPHA:505248 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Mandibular prognathia, High palate, Finger syn... |
ORPHA:710 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Abnormality of the hand, ... |
OMIM:192430 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hypothyroidism, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Abnorm... |
ORPHA:231222 |
15q26 overgrowth syndrome |
|
Camptodactyly of finger, High anterior hairline, Vesicoureteral reflux, High palate, Tapered fing... |
DECIPHER:81 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Mandibular prognathia, Tapered finger, Long philtrum, Clinodactyly of the 5th finger... |
OMIM:619721 |
Fryns Syndrome |
|
Camptodactyly, Cleft palate, Rocker bottom foot, Esophageal atresia, Proximal placement of thumb,... |
OMIM:229850 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Radioulnar synostosis |
ORPHA:3270 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Bifid uvula, Large fontanelles, Abnormal metaphysis morphology, C... |
ORPHA:2658 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Pontocerebellar Hypoplasia, Type 11 |
|
Agenesis of corpus callosum, Recurrent respiratory infections, Coloboma, Talipes equinovarus |
OMIM:617695 |
Dubowitz Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Delayed eruption of teeth, Toe syn... |
ORPHA:235 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot, Arthritis |
OMIM:192950 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Adrenal... |
OMIM:617575 |
Pallister-Hall Syndrome |
|
Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Decreased circulating cortisol level, Hip ... |
OMIM:146510 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Optic disc coloboma, Radial club hand, Preaxial hand polydactyly, Finger syn... |
ORPHA:959 |
Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, Broad phalanx, Broad metacarpals, Short metacarpal |
OMIM:618724 |
Gorham-Stout Disease |
|
Mandibular pain, Abnormal finger morphology, Abnormal ethmoid bone morphology, Abnormality of the... |
ORPHA:73 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Peg-like central prominence of distal tibial metaphyses, High palate, Coxa vara, Short femoral ne... |
OMIM:300232 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... |
ORPHA:2973 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Mode... |
OMIM:619525 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... |
ORPHA:103918 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Genu valgum, Clinodactyly of the 2nd finger, Monkey... |
OMIM:618870 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, High p... |
ORPHA:85184 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly,... |
ORPHA:79237 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Micrognathia, Metatarsus adductus, Short pal... |
OMIM:212720 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus art... |
OMIM:616276 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Conductive hearing impairment, Long philtrum, ... |
ORPHA:2878 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis... |
OMIM:251000 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormal hip bone morphology, Abnormality of the elbow, Pulmonary hypoplasia |
ORPHA:1486 |
Distal Monosomy 15Q |
|
Patent ductus arteriosus, Mitral atresia, Genu valgum, Double outlet right ventricle with doubly ... |
ORPHA:1596 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Interphalangeal thumb joint ... |
OMIM:613870 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascites, Myocardit... |
ORPHA:292 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Hydrocephalus, Coloboma, Agenesis of corpus callosum |
OMIM:615249 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat... |
ORPHA:94086 |
Osteoglophonic Dysplasia |
|
Short phalanx of finger, Short palm, Pseudoarthrosis, Eruption failure, Broad phalanx, Broad meta... |
OMIM:166250 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Gardner Syndrome |
|
Duodenal polyposis, Odontoma, Neoplasm of the pancreas, Multiple gastric polyps, Supernumerary to... |
ORPHA:79665 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... |
OMIM:601559 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Patent ductus arteriosus, Mesoaxial foot polydactyly, Ascending tubular aorta aneurysm, Truncus a... |
OMIM:612474 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial septal defect, Venous insuf... |
ORPHA:90308 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defec... |
OMIM:616894 |
Glycerol Kinase Deficiency |
|
Short stature, Adrenal insufficiency, Increased urinary glycerol, Hypoglycemia, Growth delay, Cry... |
OMIM:307030 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Hip osteoarthritis |
OMIM:170700 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Sparse scalp hair, Esophageal stricture, Palmoplantar hyperkeratosis, Oral leuk... |
OMIM:224230 |
Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Bilateral cryptorchidism, Elevated hepatic transam... |
OMIM:619471 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Long philtrum, Elbow ankylosis, Narrow p... |
ORPHA:83 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Abnormality... |
ORPHA:1263 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Bilateral single transverse palmar creases, Tetr... |
ORPHA:1913 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Accessory spleen, Bilateral renal ... |
OMIM:243605 |
Three M Syndrome 3 |
|
Long philtrum, Hip dysplasia, Slender long bone, Clinodactyly of the 5th finger, Prominent calcan... |
OMIM:614205 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Tapered finger, Small hand, Low-set ears, Long philtrum, Abnormality of thyroid p... |
OMIM:300968 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Abnormalit... |
ORPHA:3098 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration |
OMIM:611773 |
Pulmonary Hypertension, Primary, 1 |
|
Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... |
OMIM:178600 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Renal tubular acidosis, Elevated hepatic transaminase, Transient hyperlipidemia,... |
ORPHA:156 |
Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Myelomeningocele, Micr... |
ORPHA:1752 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Hallux valgus, Pulmonary hypoplasia, Thoracic aortic aneurysm, ... |
ORPHA:536467 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Hand-Foot-Genital Syndrome |
|
Pseudoepiphyses, Short 5th finger, Shortening of all middle phalanges of the fingers, Short hallu... |
OMIM:140000 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix, Supernumerary nipple, Scapul... |
OMIM:619122 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Polyhydramnios, Atrial septal defect, Multiple muscular ventricular septal ... |
OMIM:620070 |
Stickler Syndrome, Type I |
|
Conductive hearing impairment, Sensorineural hearing impairment, Pierre-Robin sequence, Arthropat... |
OMIM:108300 |
Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Au-Kline Syndrome |
|
Coxa valga, Bifid tongue, Bifid uvula, Supernumerary nipple, Overlapping toe, Cleft palate, Lipom... |
OMIM:616580 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Cleft upper lip, Mandibular prognathia, Tapered finger, Sensorineural hearing impairme... |
OMIM:239300 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Aplastic clavicle, Wide anterior fontanel, Ectopic anus, Wide mou... |
ORPHA:85199 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly |
OMIM:617068 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Coxa valga, Coxa vara, Small hand, Ventricular septal defect, Radioulnar... |
ORPHA:1425 |
Pendred Syndrome |
|
Cochlear malformation, Abnormal vestibular function, Compensated hypothyroidism, Congenital senso... |
OMIM:274600 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Long penis, ... |
OMIM:268300 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutaric acid in ... |
OMIM:246450 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Metaphyseal irregularity, Bulging epiphyses, Delayed eruption of teeth, Tibial... |
OMIM:264700 |
Loeys-Dietz Syndrome 2 |
|
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Camptodactyly, Ascending aortic dissectio... |
OMIM:610168 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... |
ORPHA:216694 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
Banki Syndrome |
|
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... |
ORPHA:1228 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Delayed eruption of teeth, Epiphyseal stippling, Dislocated radial head,... |
OMIM:101800 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Ventricular septal defect, Joint contracture o... |
OMIM:244300 |
Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal heart valve morphology |
ORPHA:36412 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Sifrim-Hitz-Weiss Syndrome |
|
Vesicoureteral reflux, Tapered finger, Short femoral neck, Fused cervical vertebrae, Flat acetabu... |
OMIM:617159 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect |
OMIM:617744 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Vascular ring, Hydrocephalus, Atrial septal defect, Postaxial polydactyly |
OMIM:603387 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Hydrocephalus, Clinodactyly of the 5th finger, Pulmonary hypopl... |
ORPHA:3309 |
Congenital Disorder Of Deglycosylation 1 |
|
Chondroitin sulfate excretion in urine, Hyperhidrosis, Hepatic fibrosis, 3-Methylglutaconic acidu... |
OMIM:615273 |
Oculocerebrorenal Syndrome Of Lowe |
|
Gingivitis, Aminoaciduria, Patellar dislocation, Delayed eruption of teeth, Micrognathia, Taurodo... |
ORPHA:534 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Mandibular prognathia, Sensorineural hearing impairment, Joint contractu... |
OMIM:148820 |
Bohring-Opitz Syndrome |
|
Retrognathia, Joint dislocation, Urinary retention, Ulnar deviation of the wrist, Fixed elbow fle... |
ORPHA:97297 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia, Elevated circulating creatine kinase concentration |
ORPHA:565899 |
8Q12 Microduplication Syndrome |
|
Short foot, Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly, Atrial septal defect |
ORPHA:2475 |
Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Mitral atresia, Short 5th finger, Ventricular septal defect, Short phal... |
OMIM:614609 |
Codas Syndrome |
|
Short phalanx of finger, Enamel hypoplasia, Genu valgum, Conductive hearing impairment, Sensorine... |
OMIM:600373 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Conductive hearing impairment, Patellar dislocation, Broad hallux, Nephrolithiasis, Talon cusp, V... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Conductive hearing impairment, Patellar dislocation, Micrognathia, Broad hallux, Wid... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Conductive hearing impairment, Patellar dislocation, Micrognathia, Broad hallux, Wid... |
ORPHA:353277 |
Fryns Syndrome |
|
Abnormal aortic morphology, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, P... |
ORPHA:2059 |
Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Pericardial effusion, Bicusp... |
ORPHA:363705 |
Orofacial Cleft 13 |
|
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening |
OMIM:613857 |
Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Wrist flexion contracture, Congenital finger flexion contractures, Arachnod... |
OMIM:121050 |
Peutz-Jeghers Syndrome |
|
Bladder polyp, Intussusception, Neoplasm of the pancreas, Multiple gastric polyps, Clubbing of fi... |
OMIM:175200 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Adducted th... |
ORPHA:2570 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Micrognathia, Flared metaphysis, Advanced tarsal ossificat... |
OMIM:215045 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Hemoglobi... |
OMIM:611881 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Macrotia, Hip dislocation, Adducted thumb, Congenital hip dislocation, Wide cranial sutures, Narr... |
OMIM:219150 |
Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Short stature, Type II diabetes mellitus, Synostosis of... |
ORPHA:3191 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Odontoma, Duodenal adenocarcinoma, Neoplasm of the pancreas, Multiple gastric... |
ORPHA:247806 |
Fgfr2-Related Bent Bone Dysplasia |
|
Metopic depression, Natal tooth, Coronal craniosynostosis, Overfolding of the superior helices, M... |
ORPHA:313855 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Small hand, Right ventricular dilatation, Lateral ventricle dilatation,... |
OMIM:612863 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Arachnodactyly, Wide pubic symphysis, Wide distal femoral metaphysis, ... |
OMIM:614856 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Alopecia, Atrophic gastritis, Hypothyroidism, Decreased circulating aldosterone level, ... |
OMIM:240300 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Genu valgum, Short philtrum, Diastema, Hypoplasia of the maxilla, Accessory oral f... |
OMIM:619142 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Hemochromatosis, Type 1 |
|
Alopecia, Cirrhosis, Increased serum iron, Glucose intolerance, Elevated hepatic transaminase, He... |
OMIM:235200 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Epiphysea... |
OMIM:614732 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Tapered finger, Short femoral neck, Patellar dislocation, Multiple join... |
OMIM:618395 |
Synostoses, Tarsal, Carpal, And Digital |
|
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... |
OMIM:186400 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Pierre-Robin sequence, Cleft soft palate, Clinodactyly of the 5th finger, Thin upper lip vermilio... |
OMIM:620183 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Low-set ears, Umbilical hernia |
OMIM:618205 |
Ulbright-Hodes Syndrome |
|
Short sternum, High palate, Humeroradial synostosis, Short metacarpal, Hypoplasia of the radius, ... |
ORPHA:3404 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Bifid tongue, Macrotia, Abnormal metacarpal morphology, Hand po... |
ORPHA:2167 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Vascular dilatation, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, ... |
OMIM:613177 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, Atrial septal defect, Sandal gap, Arachnodactyly, Umbilical hernia |
ORPHA:1035 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Foot polydactyly, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma, ... |
ORPHA:276280 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Humeroradial synostosis, Micrognathia, Elbow flexion contracture,... |
OMIM:151050 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Single transverse palmar crease, Atrial septal defect, Coarctation of a... |
OMIM:615502 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Splenomegaly, Unconjugated hyperbilirubinemia, Jaundice, Cholecystitis... |
OMIM:266200 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis |
OMIM:617100 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Peri... |
OMIM:613001 |
Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip, Encephalocele, Wormian bones |
OMIM:168500 |
Trisomy 13 |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal lung lobation, Atrial septal defect... |
ORPHA:3378 |
Meier-Gorlin Syndrome 7 |
|
2-3 toe syndactyly, Preaxial hand polydactyly, Ventricular septal defect, 2-4 finger syndactyly, ... |
OMIM:617063 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Knee flexion contracture, Hip contracture, Long philtrum, Micrognathia, Elbow flexion contracture... |
OMIM:616266 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Elevated hepatic transaminase, Dicarboxylic aciduria, Ele... |
ORPHA:42 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Pulmonary hypoplasia, Talipes equinovarus |
ORPHA:250999 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Cirrhosis, Familial |
|
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Increased level of L-fucose in urine, Jaundice... |
OMIM:215600 |
Roifman Syndrome |
|
Short toe, Hip contracture, Ventricular septal defect, Short metacarpal, Short digit, Clinodactyl... |
OMIM:616651 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E... |
ORPHA:59315 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... |
OMIM:201450 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Enamel hypoplasia, Delayed epiphyseal ossification, Delayed eruption of teeth, Second... |
ORPHA:289157 |
Scleromyxedema |
|
Transient ischemic attack, Abnormal forearm morphology, Abnormality of the hand, Abnormal coronar... |
ORPHA:167635 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
2-3 toe syndactyly, Double outlet right ventricle, Patent foramen ovale, Ventricular septal defec... |
ORPHA:477817 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Microdontia, Elbow flexion contracture, Supernumerary nipple, Broad distal phalanx of the toes, T... |
OMIM:619194 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Type I diabetes mellitus, Renal cyst, Elevated circulating ri... |
ORPHA:488618 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Hip d... |
OMIM:208085 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Short foot, Small hand, Calvarial osteosclerosis, Sle... |
OMIM:244460 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... |
ORPHA:480536 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Type II diabetes mellitus, Elevated hepatic transaminase, Elevated circulating creatine kinase co... |
ORPHA:79095 |
Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... |
OMIM:609192 |
Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Abnormal lung lobation, Hip dislocation, Pulmonary h... |
ORPHA:958 |
Baller-Gerold Syndrome |
|
Absent thumb, Conductive hearing impairment, Aplasia of metacarpal bones, Micrognathia, Bifid uvu... |
OMIM:218600 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Lip pit, 2-3 finger syndactyly, Preaxial foot polydactyly, Occipital m... |
OMIM:601707 |
Culler-Jones Syndrome |
|
Cleft upper lip, Anterior pituitary hypoplasia, Hypopituitarism, Ectopic posterior pituitary, Cry... |
OMIM:615849 |
Holoprosencephaly 9 |
|
Prominent antihelix, Postaxial hand polydactyly, Cleft palate, Bilateral cleft lip and palate, Ag... |
OMIM:610829 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Multiple small medullary renal cysts, Renal insufficiency, Hypophosphatemia, Parath... |
OMIM:600740 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Branchioskeletogenital Syndrome |
|
Bifid uvula, Amelia involving the lower limbs, Absent nipple, Attached earlobe, Rootless teeth, C... |
ORPHA:1299 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Hypoglycemi... |
OMIM:231530 |
Loeys-Dietz Syndrome 5 |
|
Overfolded helix, Congenital finger flexion contractures, Retrognathia, High palate, Cleft soft p... |
OMIM:615582 |
Propionic Acidemia |
|
Hyperglycinemia, Short stature, Hypoglycemia, Increased level of hippuric acid in urine, Hyperamm... |
OMIM:606054 |
Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Polydactyly, Joint contracture of the hand, Delayed eruption of teeth,... |
OMIM:247200 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Joint contracture of the hand, Atrial septal defect, Narrow palm, Abnor... |
ORPHA:352490 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Abnormality of the dentition, Taurodon... |
ORPHA:3220 |
Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Clinodactyly of the 5th fi... |
OMIM:619149 |
Marshall Syndrome |
|
Thick upper lip vermilion, Coxa valga, Micrognathia, Irregular distal femoral epiphysis, Bifid uv... |
OMIM:154780 |
Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Toe syndactyly, Hip dislocation, Smooth philtrum, Short to... |
ORPHA:2308 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the lungs, Halberd-shaped pelvis, Clinodactyly of ... |
ORPHA:2635 |
Postaxial Acrofacial Dysostosis |
|
Midgut malrotation, Conical tooth, Cleft upper lip, Conductive hearing impairment, Hypoplasia of ... |
OMIM:263750 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:1532 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hip dysplasia, Deviation of the 5th finger, Unilateral renal agenesis, Prominent metopic ridge, B... |
OMIM:616362 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hip dysplasia, Agenesi... |
OMIM:612582 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Arachnodactyly, Recurrent respiratory infections, Bilateral sing... |
ORPHA:1548 |
Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Even-Plus Syndrome |
|
Patent foramen ovale, Atrial septal defect, Epiphyseal dysplasia, Dysplasia of the femoral head, ... |
OMIM:616854 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Broad ... |
OMIM:151200 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Delayed eruption of teeth... |
OMIM:143095 |
Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Dislocated radial head, Celiac disease, Avascular necrosis o... |
ORPHA:2044 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Hereditary Chronic Pancreatitis |
|
Recurrent pancreatitis, Pancreatic calcification, Jaundice, Diabetes mellitus, Elevated circulati... |
ORPHA:676 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Metaphyseal cupping, Deep philtrum, Short long bone, Microtia, Hypoplastic... |
OMIM:613320 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect, Adducted thumb, Rocker bottom foot, Agenesis of corpu... |
ORPHA:89844 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid conc... |
ORPHA:2298 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Short 5th finger, Clinodactyly of the 3rd finger, Hyperextensibility of the... |
OMIM:618821 |
Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Scapular winging, Cleft palate, Talipes equinovarus, Vertebral fusion, C... |
OMIM:272460 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Clinodactyly of the 5th finger, Toe clinodac... |
OMIM:619910 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Patent foramen ovale, Lateral ventricle dilatation, Lens coloboma, Sandal gap... |
OMIM:618914 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Clinodactyly, Atrial septal defect, Brachydactyl... |
OMIM:614261 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biventricul... |
OMIM:261740 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Hip dysplasia, Atrial septal defect, Coarctation... |
OMIM:618494 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:453499 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Abnormal hand morphology, Ventricular septal defect, Bicuspid aort... |
ORPHA:371428 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Ventricular septal defect, Patellar aplasia, C... |
ORPHA:96167 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand, Micropenis |
OMIM:245800 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Encephalocele, Patellar hypoplasia, Preaxial foot polydactyly, Syndacty... |
OMIM:603671 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Steel Syndrome |
|
Sensorineural hearing impairment, Coxa vara, Hip dislocation, Carpal synostosis, Clinodactyly of ... |
OMIM:615155 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Tuberous Sclerosis Complex |
|
Parathyroid adenoma, Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of the kid... |
ORPHA:805 |
Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Talipes equinovarus, Hip dislocation, Unilateral renal agenesis, ... |
OMIM:616603 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:2990 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... |
OMIM:600791 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... |
OMIM:620067 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, High palate, Sensorineural hearing impairment, Hip dysplasia, Broad alveol... |
OMIM:616975 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Delayed eruption of teeth, Nephr... |
OMIM:300990 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Aplasia/Hypoplasia... |
OMIM:192445 |
Bor Syndrome |
|
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia, Renal insuffic... |
ORPHA:107 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Meier-Gorlin Syndrome 1 |
|
Coxa valga, Microdontia, Micrognathia, Osteochondritis dissecans, Camptodactyly, Elbow dislocatio... |
OMIM:224690 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Patent ductus arteriosus, Ulnar deviation of the hand or of fingers of the hand, Ventricular sept... |
OMIM:214100 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Apla... |
ORPHA:1112 |
Igg4-Related Thyroid Disease |
|
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Thyroiditis, Th... |
ORPHA:64744 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Opitz-Kaveggia Syndrome |
|
Delayed closure of the anterior fontanelle, Micrognathia, Camptodactyly, Broad hallux, Radial dev... |
OMIM:305450 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, 3-... |
OMIM:610198 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Widely space... |
ORPHA:90024 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... |
ORPHA:2092 |
Rauch-Steindl Syndrome |
|
Short stature, Clinodactyly of the 5th finger, Bilateral renal hypoplasia, Hepatomegaly, Exocrine... |
OMIM:619695 |
Greenberg Dysplasia |
|
Short phalanx of finger, Tetraphocomelia, Epiphyseal stippling, Pulmonary hypoplasia, Hypoplasia ... |
OMIM:215140 |
Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Pineal cyst, Broad hallux, High anterior hairline, Genu valgum, Shor... |
OMIM:615873 |
Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, 2-3 toe syndactyly, Short toe, Short 5th finger, Tapered finger, Small h... |
OMIM:605130 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi... |
ORPHA:352665 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Coxa valga, Epiphyseal stippling, Camptodactyly, Pulmonary hypopl... |
ORPHA:96334 |
Cleft Velum |
|
Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ... |
ORPHA:99772 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Splenomegaly, Decreased glucosephosphate isomerase level, Jaundice, Cholecystitis, Pigment gallst... |
OMIM:613470 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Oligoarthritis, Abnormality of the elbow, Abnormality of the calcaneus, Hip... |
ORPHA:85438 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Micrognathia, Small pituitary gland, Cupped ear, Cryptorchid... |
ORPHA:93932 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Pleural effusion, Edema, Ascites, Generalized edema |
ORPHA:90362 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Recurrent pneumonia, R... |
OMIM:619769 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Epiphyseal stippling, Pulmonary hypoplasia, Partial agenesis of the corpus call... |
ORPHA:86822 |
Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t... |
OMIM:227646 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Toe syndactyly, Intestinal malrot... |
ORPHA:1553 |
Vater/Vacterl Association |
|
Triphalangeal thumb, Vesicoureteral reflux, Esophageal atresia, Renal dysplasia, Hypoplasia of th... |
OMIM:192350 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Delayed cranial suture closure, Coxa valga, Acroosteolysis of distal phalanges (feet), High palat... |
OMIM:248370 |
Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, High palate, Sensorineural hearing impairment, Abnorm... |
ORPHA:2789 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabete... |
OMIM:609812 |
Pendred Syndrome |
|
Hypothyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular ... |
ORPHA:705 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect |
ORPHA:49827 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hepatic failure, Short stature, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circu... |
OMIM:614886 |
Coffin-Siris Syndrome 5 |
|
Short distal phalanx of finger, Sandal gap, Atrial septal defect, Arachnodactyly |
OMIM:616938 |
Campomelic Dysplasia |
|
Short phalanx of finger, Irregular dentition, Spinal dysraphism, Conductive hearing impairment, H... |
OMIM:114290 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Delayed cranial suture closure, High palate, Acroosteolysis of distal ph... |
OMIM:608612 |
Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Epiphyseal stippling, Hip dislocation, Pulmonary hypoplasia,... |
OMIM:270400 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Tapered finger, Ventricular septal defect, Cutaneous syndactyly of toes, Dilation of Virchow-Robi... |
OMIM:300998 |
16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Decreased response to growth hormone stimulation test, Tapered finger, Hallux... |
ORPHA:485405 |
Trisomy 10P |
|
Abnormal auditory evoked potentials, Abnormal lip morphology, Micrognathia, Camptodactyly, Poster... |
ORPHA:171929 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... |
ORPHA:2634 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Hydronephrosis, Progressive forearm bowing, Ulnar deviation of the hand ... |
OMIM:600383 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Abnormal metaphysis morphology, Abnormal ... |
ORPHA:93267 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Lateral ventricle dilatation |
OMIM:616816 |
Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, High palate, Crossed fused renal ectopia, Micrognathia, Microret... |
OMIM:300960 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Low-set ears, Cutaneous finger synda... |
OMIM:178110 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Villous atrophy, Malabsorption, Hyperbilirubinemia, Elevated hepatic transaminas... |
OMIM:557000 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hepatoblastoma, Thickened cortex of long bones, Postaxial hand polydactyly, Talipes equinovarus, ... |
OMIM:269150 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Hydrocephalus, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Alpha-Thalassemia |
|
Splenomegaly, Hypersplenism, Jaundice, Cholelithiasis |
ORPHA:846 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Advanced ossification of carpal bones, Coxa valga, Hallux valgus, Large iliac wi... |
OMIM:271640 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... |
OMIM:184253 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Decreased response to growth hormone stimulation test, Wide anterior fontanel, Wormi... |
OMIM:601853 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Micrognathia, Epiphyseal stippling, Submucous cleft hard palate, Abnormal pelvic gir... |
OMIM:222765 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Increased circulating very... |
OMIM:614887 |
Transaldolase Deficiency |
|
Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta |
ORPHA:101028 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Brachydactyly, Aortic valve stenosis, Short thumb, Pulmonic stenosis |
ORPHA:3449 |
Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Aplasia/Hypoplasia of the thumb, Conductive ... |
ORPHA:87 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Small hand, Clinodactyly, Camptodactyly, Anteriorly placed anus, Cl... |
OMIM:619980 |
Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Short first metatarsal, Short 1st metacarpal, Microtia, Synostosis of carp... |
ORPHA:2438 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... |
ORPHA:141127 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology, Vestibular hypofunction, Sensorineural hearing impairment, Abn... |
ORPHA:231169 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Sensorineural hearing impairment, Coro... |
OMIM:603116 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Coxa valga, Dela... |
OMIM:309350 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, High palate, Long philtrum, Overlapping toe, Tented upper lip ver... |
OMIM:619383 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Proximal placement of thumb, Ventricular septal defect |
OMIM:618624 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect, Aplasia/Hypopl... |
ORPHA:94066 |
Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Toe syndactyly, Microg... |
OMIM:304120 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, 4-hyd... |
OMIM:617156 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct, Widely-spaced incisors, Brachydactyly |
ORPHA:79414 |
Denys-Drash Syndrome |
|
Nephroblastoma, Neonatal death, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidn... |
OMIM:194080 |
Caudal Regression Syndrome |
|
Arrhinencephaly, Pulmonary hypoplasia, Abnormal pelvic girdle bone morphology, Abnormal iliac win... |
ORPHA:3027 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Advanced ossification of carpal bones, Hypoplastic ilia, Hip dysplasia, Hip dislocation, Carpal s... |
OMIM:615349 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
20P12.3 Microdeletion Syndrome |
|
Broad thumb, Atrial septal defect, Broad hallux phalanx |
ORPHA:261295 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Short metacarpa... |
OMIM:150230 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, High palate, Hypocalcemia, Hepatosplenomegaly, Hypertrichosis, Pancreatic lympha... |
ORPHA:1655 |
Achondrogenesis, Type Ia |
|
Bowing of the arm, Hypoplasia of the radius, Abnormal femoral metaphysis morphology, Pulmonary hy... |
OMIM:200600 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot |
OMIM:618506 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Hypohidrosis, Macrotia, Abnormality of the elbow, Finger syndactyl... |
ORPHA:1005 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Delayed eruption of teeth, Camptodactyly, Spina bifida occulta, Sm... |
OMIM:235510 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Short 5th finger, Ventricular septal defect, Bicu... |
ORPHA:500159 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Coloboma |
OMIM:619318 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Patent ductus arteriosus, Epiphyseal stippling of toe phalanges, Stippling of the epiphyses of th... |
ORPHA:79345 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, Cardiomyopathy |
OMIM:249270 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect, Abnormal ilium morphology, ... |
OMIM:614080 |
Renal Agenesis |
|
Pulmonary hypoplasia, Ventricular septal defect, Talipes equinovarus |
ORPHA:411709 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Hallux valgus, Short metacarpal, Short stature, Absent eyelashes, Brachydactyly, Renal ... |
ORPHA:166035 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Semilobar holoprosencephaly, Ventricular septal defect |
OMIM:245552 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Genu varum, Mandibular... |
OMIM:619636 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Molar tooth sign on MRI, Foot polydactyly, Hydrocephalus, Hand polydactyly |
ORPHA:2318 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hematuria, Hepatoblastoma, Inflamm... |
OMIM:232240 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Optic disc coloboma, Atrial septal defect |
OMIM:241310 |
Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Delayed cranial suture closure, Elevated circulating thyroid-stimulating hormone co... |
OMIM:601812 |
Subependymal Nodular Heterotopia |
|
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
Orofaciodigital Syndrome Xvi |
|
Postaxial hand polydactyly, Molar tooth sign on MRI, Postaxial foot polydactyly |
OMIM:617563 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella... |
OMIM:608091 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Coloboma, Flared iliac wing, Duplication of phalanx of hallux, Dislocated radial hea... |
OMIM:180849 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular septal defect, Hydrocephalus, Ho... |
ORPHA:2162 |
Keutel Syndrome |
|
Ventricular septal defect, Shortening of all distal phalanges of the fingers, Epiphyseal stipplin... |
OMIM:245150 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Tibial torsion, Renal malrotation, En... |
ORPHA:500095 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... |
OMIM:615751 |
Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
Esophageal Atresia |
|
Bronchitis, Ventricular septal defect, Recurrent respiratory infections, Coloboma, Clinodactyly, ... |
ORPHA:1199 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Stil... |
OMIM:119800 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Sparse eyebrow, Sparse scalp hair, Multicystic kidney dysplasia, Short foot, Shor... |
ORPHA:1001 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology |
ORPHA:300751 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Anomalous ori... |
ORPHA:2326 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Ventricular septal defect, Toe syndactyly, Bicuspid aortic valve, Atrial septal de... |
OMIM:100300 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... |
OMIM:601927 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Ogden Syndrome |
|
Delayed cranial suture closure, Macrotia, Everted upper lip vermilion, Microretrognathia, Broad h... |
ORPHA:276432 |
Native American Myopathy |
|
Conductive hearing impairment, High palate, Micrognathia, Bifid uvula, Camptodactyly, Submucous c... |
ORPHA:168572 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thick upper lip vermilion, Delayed cranial suture closure, Knee flexion contracture, Hypoplastic ... |
OMIM:210730 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Spina bifida, Micrognathia, Organic aciduria, Hepatomegaly |
ORPHA:99742 |
Alagille Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septal defect, Hypoplasia of th... |
ORPHA:52 |
Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Tapered finger, Camptodactyly, Large fontanelles, Prominent metop... |
ORPHA:1272 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Microdontia, Abnormal oral frenulum morphology, Abnormality of the ure... |
ORPHA:289 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Clinodactyly of t... |
OMIM:618619 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Patent foramen ovale, Valvular pulmonary stenosis, Toe syndactyly, Bicuspid aortic valve, Clinoda... |
OMIM:300707 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Eruption failure, Odontoma, Duodenal adenocarcinoma, Multiple gastric polyps,... |
OMIM:175100 |
Chromosome 17Q12 Deletion Syndrome |
|
Upper limb undergrowth, High palate, Short foot, Hypoplasia of the bladder, Multicystic kidney dy... |
OMIM:614527 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Hepatomegaly |
ORPHA:163681 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, High palate, Deep philtrum, Micrognathia, Prominent metopic ridge, Tented upper lip ... |
ORPHA:314655 |
Megalencephaly |
|
Genu valgum, Atrial septal defect |
ORPHA:2477 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Hepatosplenomegaly, Protruding tongue, Hepatomegaly, Low-set ears, Gingival overgrow... |
ORPHA:93400 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
OMIM:617049 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Hyperbilirubinemia, Cholecystitis, Cholelithiasis, Splenomegaly |
OMIM:235700 |
Baraitser-Winter Syndrome 2 |
|
Coloboma, Agenesis of corpus callosum |
OMIM:614583 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Hypoglycemia, Elevated urinary 3-m... |
OMIM:210200 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Neonatal hypoglycemia, Elevated circulating... |
OMIM:212138 |
Axial Spondylometaphyseal Dysplasia |
|
Hypoplastic iliac wing, Iliac crest serration, Upper limb undergrowth, Proximal femoral metaphyse... |
ORPHA:168549 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Atrial septal defect, Arachnodact... |
OMIM:301039 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Acroosteolysis of distal phalanges (feet), Breast aplasia, Large fontanelles, Osteol... |
ORPHA:90153 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
Al-Raqad Syndrome |
|
Sandal gap, Atrial septal defect, Brachydactyly |
OMIM:616459 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 2nd finger, Coxa valga, Short foot, Wide pubic symphysis, Ventricular septal ... |
OMIM:620073 |
Codas Syndrome |
|
Short metacarpal, Extrahepatic biliary duct atresia, Short stature, Hydroureter, Abnormal pelvic ... |
ORPHA:1458 |
Carpenter Syndrome 2 |
|
Camptodactyly, Supernumerary nipple, Talipes equinovarus, Narrow palate, Cryptorchidism, Hypoplas... |
OMIM:614976 |
Trichohepatoneurodevelopmental Syndrome |
|
Recurrent pancreatitis, Hypothyroidism, Synophrys, Hip dislocation, Overlapping toe, Hepatomegaly... |
OMIM:618268 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Delayed cranial suture closure, Micrognathia, Camptodactyly, Metatarsus ... |
OMIM:249420 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Nephroblastoma, Peptic ulcer, Renal insufficiency, Parathyroid adenoma... |
ORPHA:99880 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, High palate, Short stature, Diabetic ketoacidosis, Long penis, Hypoglycemia, Po... |
OMIM:262190 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Absent phalangeal crease, Recurrent shoulder dislocation, Genu valgum, Joint dislocation, High pa... |
ORPHA:230851 |
Cerebrooculonasal Syndrome |
|
Conductive hearing impairment, High palate, Narrow palate, Encephalocele, Long philtrum, Solitary... |
OMIM:605627 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Edema, Pleural effusion |
OMIM:617822 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Iris colob... |
ORPHA:77298 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Delayed closure of the anterior fontanelle, Microdontia, Micrognathia, Hyperhidrosis, Abnormality... |
ORPHA:96182 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Arachnodactyly, Vascular dilatation, Coxa valga, Avascular necrosis of the ... |
ORPHA:3342 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:618775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Large hands, Short foot, Short stature, Decreased testicular size, Brachydactyly, Cu... |
OMIM:300534 |
Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Coloboma, Cyclopia |
OMIM:147250 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Short distal phalanx of toe, Bilateral trip... |
OMIM:619356 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Retinal coloboma, Camptodactyly, Palmop... |
OMIM:280000 |
Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Radial deviation of the 3rd finger, Broad hallux, Absent proximal phalanx ... |
OMIM:149730 |
Joubert Syndrome 35 |
|
Single transverse palmar crease, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:618161 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Synophrys, Elbow flexion contracture, Dislocated radial head, Reduced renal c... |
OMIM:122470 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Conductive hearing impair... |
OMIM:300373 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Splenomegaly |
ORPHA:848 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent forearm, Aplasia of metacarpal bones, S... |
OMIM:200500 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Hepatitis, Bifid uvul... |
OMIM:614921 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Delayed closure of the anterior fontanelle, Short 5th finger, Toe syndactyly, Microdontia, Microg... |
OMIM:610759 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Neurogenic bladder, J... |
OMIM:608779 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Iris coloboma, Dysplastic corpus callosum, T... |
ORPHA:2328 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Slender finger, Ventricular septal defect, Talipes equinovarus |
OMIM:147800 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Microg... |
OMIM:259420 |
Charge Syndrome |
|
Coloboma, Secundum atrial septal defect, Holoprosencephaly, Iris coloboma, Bilateral talipes equi... |
OMIM:214800 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, High palate, Abnormal pelvic girdle bone morphology, Hypospadias, C... |
ORPHA:2115 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Renal salt wasting, Hypoglycemia, Cryptorchid... |
OMIM:614736 |
Microphthalmia, Syndromic 6 |
|
Polydactyly, Hypothyroidism, Anterior hypopituitarism, Toe syndactyly, Micrognathia, Bifid uvula,... |
OMIM:607932 |
Coronary Arterial Fistula |
|
Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Vascular di... |
ORPHA:2041 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect, Agenesis of corpus callosum |
OMIM:218350 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Triphalangeal thumb, Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Clino... |
OMIM:220500 |
Schisis Association |
|
Spina bifida, Anencephaly, Encephalocele |
ORPHA:63862 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Short toe, Abnormal cardiac septum morphology, Toe syndactyly, Hydrocep... |
ORPHA:709 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Edema, Ascites, Pleural effusion |
ORPHA:93552 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Nephroblastoma, Peptic ulcer, Renal insufficiency, Renal hamartoma, Ab... |
ORPHA:143 |
Developmental And Epileptic Encephalopathy 66 |
|
Dextrocardia, Clinodactyly of the 5th finger, Ventricular septal defect, Atrial septal defect |
OMIM:618067 |
Trisomy 1Q |
|
Camptodactyly of finger, Arachnodactyly, Multicystic kidney dysplasia, Congenital megaureter, Pre... |
ORPHA:261344 |
Igg4-Related Submandibular Gland Disease |
|
Retroperitoneal fibrosis, Renal insufficiency, Prostatitis, Enlarged lacrimal glands, Cholangitis... |
ORPHA:449432 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Arachnodactyly |
ORPHA:93946 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Absent thumb, Ventricular septal defect, Short 1st metacarpal, Hypoplasia o... |
OMIM:609053 |
Sialuria |
|
2-3 toe syndactyly, Long hallux, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly,... |
ORPHA:3166 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Finger clinodacty... |
OMIM:272440 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodactyly, Atrial septal ... |
ORPHA:363444 |
Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Coronal craniosynostosis, Microretrognathia, Wide cranial... |
OMIM:616294 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, T... |
ORPHA:210122 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Short 5th metacarpal, Femoral bowing, Broad thumb, Wormian bones |
OMIM:619638 |
Zellweger Syndrome |
|
Hepatic failure, Multicystic kidney dysplasia, High palate, Short stature, Malabsorption, Jaundic... |
ORPHA:912 |
Jacobsen Syndrome |
|
Annular pancreas, Pyloric stenosis, Micrognathia, Clinodactyly of the 5th finger, Hypospadias, Cr... |
OMIM:147791 |
Acth Deficiency, Isolated |
|
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia, Adrenocorticot... |
OMIM:201400 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Patent foramen ovale, Respiratory tract infection, Patent ductus arteriosus, Hypopla... |
OMIM:607143 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Argininemia |
|
Portal fibrosis, Oroticaciduria, Diaminoaciduria, Micronodular cirrhosis, Cholestasis, Hepatomega... |
OMIM:207800 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Atrial septal defect |
ORPHA:466926 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypoplastic iliac wing, Patent ductus arteriosus, Vascular dilatation, Coxa vara, Abnormal cerebr... |
ORPHA:2637 |
Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit... |
OMIM:607326 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Vesicoureteral reflux, Aplasia/Hypoplasia of the thumb, Preaxial hand polyda... |
ORPHA:2549 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... |
ORPHA:171876 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Ventricular septal defect, Short long bone, ... |
ORPHA:2256 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Tapered finger, Ventricular septal defect, Clinodac... |
OMIM:617061 |
Delpire-Mcneill Syndrome |
|
Hip dislocation, Ventricular septal defect, Agenesis of corpus callosum |
OMIM:619083 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Tyrosinemia, Type Iii |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat... |
OMIM:276710 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Sandal gap, Short distal phalanx of finger, Shor... |
ORPHA:217017 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Ascites, Abnormal myocardium morphology |
ORPHA:77259 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Brachydactyly, Atrial septal defect, Arachnodactyly |
ORPHA:776 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... |
OMIM:619355 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Narrow palate, Finger syndactyly, Micrognathia, Synostosis of carpal bon... |
ORPHA:1323 |
Luscan-Lumish Syndrome |
|
Mandibular prognathia, Advanced ossification of carpal bones, Recurrent otitis media, Polycystic ... |
OMIM:616831 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Finger syndactyly, Atrial septal defect |
ORPHA:261272 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis |
OMIM:182900 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Preaxial hand polydactyly, Bifid tongue, Short foot, Ectopic anus, Esophageal atresia, Urethrovag... |
ORPHA:93271 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Bilateral radial aplasia, Hydr... |
OMIM:300514 |
Limb Body Wall Complex |
|
Duplication of hand bones, Encephalocele, Forearm reduction defects, Ventricular septal defect, C... |
ORPHA:2369 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Situs inversus totalis, Dextrocard... |
OMIM:616037 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Severe Congenital Nemaline Myopathy |
|
Adducted thumb, Pulmonary hypoplasia |
ORPHA:171430 |
Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of ... |
ORPHA:77301 |
Woods Syndrome |
|
Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Ventricular septal defect, Limi... |
OMIM:615236 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Short toe, Delayed closure of the anterior fontanelle, Wide anterior fon... |
OMIM:225410 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs, Abnormality of limb bone morphology |
ORPHA:2204 |
Dysosteosclerosis |
|
Short diaphyses, Short sternum, Broad femoral neck, Delayed closure of the anterior fontanelle, H... |
OMIM:224300 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Tapered finger, Ventricular septal defect, Hyperextensibility of the finger joints, Toe syndactyl... |
ORPHA:505237 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Patellar hypoplasia, Clinodactyly of the 5th finger, Atrial septal defe... |
ORPHA:261279 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Hypohidrosis, Everted upper lip vermilion, Microdontia, Hypodontia, Absent nipple,... |
OMIM:305100 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Hamartomatous stomach polyps, Cleft upper lip, Short 4th metacarpal, Od... |
OMIM:109400 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hyperhidrosis, 3-Methylglutaconic aciduria, Polydactyly, Abnormal mitochondrial shape, Methylmalo... |
ORPHA:17 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Urinary retention, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosph... |
ORPHA:2126 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Supernumerary nipple, Hepatoblastoma, Hypoglycemia, Hepa... |
ORPHA:373 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
2-3 toe syndactyly, Cirrhosis, Malabsorption, Glycosuria, Elevated hemoglobin A1c, Exocrine pancr... |
OMIM:616539 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615279 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, Hyperhidrosis, High palate, Arthropathy, Arthrit... |
OMIM:259100 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Wormian bones, Dentinogenesis imperfecta |
OMIM:259440 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Mandibular prognathia, Coxa vara, Flat capital... |
OMIM:271510 |
Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Pulmonary hypoplasia, Absent palmar crease |
ORPHA:994 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal medulla oblongata morphology |
ORPHA:206448 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Enuresis nocturna, Submucous cleft hard palate, Recurrent otitis media, Thin uppe... |
OMIM:619680 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Lateral ventricle dilatation, Bicuspid aorti... |
OMIM:617751 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Bifid uvula, Abnormal distal pha... |
ORPHA:2636 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypertrophic cardiomyopathy, ... |
OMIM:612938 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Neonatal death, Pulmonary hypoplasia |
OMIM:608013 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Molar tooth sign on MRI, Foot polydactyly, Hydrocephalus, Hand polydactyly |
ORPHA:220493 |
16P13.11 Microdeletion Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Agenesis of corpus callosu... |
ORPHA:261236 |
Phocomelia, Schinzel Type |
|
Meningocele, Foot oligodactyly, Humeroradial synostosis, High, narrow palate, Hypoplasia of the r... |
ORPHA:2879 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Deep palmar crease, Hearing impairment, Splenomegaly, Posteriorly rotated ears, Hyp... |
OMIM:115150 |
C Syndrome |
|
High palate, Renal cortical cysts, Short metacarpal, Short stature, Toe syndactyly, Clinodactyly,... |
OMIM:211750 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Finger syndactyly, Ventricular septal defect, Lateral ventricle dilatation, L... |
ORPHA:464738 |
Alagille Syndrome 1 |
|
Renal dysplasia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypercholesterolemia, V... |
OMIM:118450 |
Kinsship Syndrome |
|
Polydactyly, Mandibular prognathia, Coxa valga, Wide mouth, Widely spaced teeth, Thick lower lip ... |
OMIM:619297 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Small hand, Hydrocephalus, Camptodactyly, Atrial septal defect, Bilateral single transverse palma... |
ORPHA:459061 |
Congenital Myopathy 12 |
|
Arachnodactyly, Joint contracture of the hand, Camptodactyly, Pulmonary artery stenosis, Overlapp... |
OMIM:612540 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Microdontia, Oligodontia, Anhidrosis, Agenesis of permanent molar |
OMIM:604625 |
Congenital Myopathy 17 |
|
Hand clenching, Respiratory tract infection, Tapered finger, Clinodactyly, Pulmonary hypoplasia, ... |
OMIM:618975 |
Warsaw Breakage Syndrome |
|
Optic disc coloboma, 2-3 toe syndactyly, Ventricular septal defect, Clinodactyly of the 5th finge... |
OMIM:613398 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites |
OMIM:618183 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Shortening of all distal phalanges of the fingers, Peripheral pulmonary artery sten... |
OMIM:614749 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Long philtrum, Wide anterior fontanel, Pyloric stenosis, Submucous cleft hard palate... |
ORPHA:457279 |
Fontaine Progeroid Syndrome |
|
Patent ductus arteriosus, Pneumothorax, Recurrent aspiration pneumonia, Bicuspid aortic valve, Hy... |
OMIM:612289 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Delayed eruption of teeth, Taurodontia, Short philtrum, High, n... |
ORPHA:3214 |
Osteogenesis Imperfecta, Type Xvi |
|
Conductive hearing impairment, Short long bone, Microretrognathia, Tooth agenesis, Angulated hume... |
OMIM:616229 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Tapered finger, Cleft soft palate, Microdontia, Smooth philtrum, Cleft palate, Hearing impairment... |
OMIM:619950 |
Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... |
ORPHA:3092 |
Lathosterolosis |
|
Meningocele, High palate, Long philtrum, Toe syndactyly, Micrognathia, Hypoplasia of penis, Posta... |
ORPHA:46059 |
20Q13.33 Microdeletion Syndrome |
|
Tapered finger, Hallux valgus, Dilation of Virchow-Robin spaces, Short lower limbs, Talipes equin... |
ORPHA:261311 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting, Adrenal hyperplasia, Hypoglycemia |
OMIM:201910 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse, Camptodactyly, Adducted thumb, Arachnodactyly, Bilat... |
OMIM:615539 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Elevated alkaline phosphatase of hepatic origin, Neoplasm of the liver, El... |
ORPHA:100085 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Preaxial hand polydactyly, Decreased response to growth hormone stimulation test,... |
ORPHA:96179 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Micrognathia, Biliary tract abnormality, Microtia, second degree, Thin ve... |
OMIM:261540 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Delayed eruption of teeth, Microdontia, Metaphyseal striations, Tooth ag... |
ORPHA:221016 |
Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Patellar dislocation, Micrognathia, Thin vermilion border, Hepatome... |
ORPHA:955 |
North American Indian Childhood Cirrhosis |
|
Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis |
OMIM:604901 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Delayed eruption of teeth, Micrognathia, Abnormal metaphysis morphology, Bow... |
ORPHA:2050 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, Re... |
ORPHA:90674 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Vesicoureteral reflux, Mandibular prognathia, Wide mouth, Thick lower lip vermilion, Submucous cl... |
OMIM:619103 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
OMIM:314320 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Molar tooth sign on MRI |
ORPHA:220497 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Increased circulating cortisol level, Type II diabetes mellitus, Pituitary adenoma, Ele... |
ORPHA:189439 |
Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Hallux valgus, Toe syndactyly, Cleft of chin, Partial duplication... |
OMIM:101400 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Absent thumb, Short stature, Esophageal atresia, Anteriorly placed anus, Growth ... |
OMIM:615272 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Glomerulonephritis, Frontal... |
ORPHA:64 |
Distal Trisomy 5Q |
|
Absent thumb, Short stature, Aplasia/Hypoplasia of the gallbladder, Hypoplasia of the radius, Hyp... |
ORPHA:96097 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Ventricular septal defect, Repeated pneumothoraces, Clinodactyly of the 5th... |
OMIM:617602 |
Atrial Septal Defect, Ostium Primum Type |
|
Left ventricular hypertrophy, Clubbing of toes, Clubbing of fingers, Pulmonary artery dilatation,... |
ORPHA:99106 |
Periventricular Nodular Heterotopia 7 |
|
1-4 toe syndactyly, 2-3 toe syndactyly, Ventricular septal defect, 4-5 finger syndactyly, Clinoda... |
OMIM:617201 |
Occipital Horn Syndrome |
|
Delayed cranial suture closure, Coxa valga, Large iliac wing, Hip dislocation, Abnormality of the... |
ORPHA:198 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the elbow, Renal dysplasia, Hypoplasia of the radius... |
ORPHA:3015 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Hallux valgus, Spatulate thumbs, Elbow flexion contracture, Hip dislocation... |
OMIM:245600 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Bifid uvula, Submucous cleft hard palate, Protruding ear, Hypoplasia of penis,... |
ORPHA:899 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Talipes equinovarus |
OMIM:191830 |
Omodysplasia 1 |
|
Short tibia, Anterolateral radial head dislocation, Ventricular septal defect, Limited elbow flex... |
OMIM:258315 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Ventricular septal defect, Atrial se... |
OMIM:610978 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy |
OMIM:207950 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Delayed cranial suture closure, Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulat... |
OMIM:613038 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Patellar hypoplasia, Coloboma, Brachydactyly |
ORPHA:464288 |
Poems Syndrome |
|
Pericardial effusion, Edema, Ascites, Pleural effusion |
ORPHA:2905 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... |
ORPHA:1457 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Long philtrum, Wormian bones, Congenital hip dislocation, Large fontanelles, Malar f... |
OMIM:612940 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Hyperalaninemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Increased u... |
ORPHA:348 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Proximal renal tubular acidosis, Sensorineural hearing impairment, Postaxial polydactyly, Cryptor... |
OMIM:615824 |
Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Conductive hearing impairment, Hallux valgus, Toe syndactyly, Micrognathia, Hip dis... |
OMIM:154400 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Neoplasm of the tongue, Abnormal antihelix morphology, Hypothyroidism, R... |
ORPHA:3047 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Schuurs-Hoeijmakers Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect, Lateral ventricle dilatatio... |
OMIM:619995 |
Birk-Barel Syndrome |
|
High palate, Bifid uvula, Short philtrum, Microretrognathia, Submucous cleft soft palate, Single ... |
OMIM:612292 |
Ppoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97278 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Bronchiectasis, Recurrent sinusitis, Atrial septal defect, Recurrent pneumonia, Recurrent respira... |
OMIM:618282 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Tapered finger, Ventricular septal defect, Down-sloping shoulders, Atrial septal defect, Overlapp... |
OMIM:617452 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Ventricular septal defect, Abnormal shoulder morphology |
ORPHA:2345 |
Lateral Meningocele Syndrome |
|
Meningocele, Vertebral fusion, Conductive hearing impairment, High palate, Long philtrum, Abnorma... |
OMIM:130720 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, High palate, Polysplenia, Macronodular cirrhosis, Ne... |
OMIM:619418 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Arachnodactyly, Patellar aplasia, Camptodactyly of toe, Camptodactyly, Hip dislocation, Acetabula... |
OMIM:265000 |
Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... |
ORPHA:2307 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger, Brachydactyly, Tet... |
ORPHA:3306 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed cranial suture closure, 2-3 toe syndactyly, Vesicoureteral reflux, Tapered finger, High p... |
OMIM:618653 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Aplasia/hypoplasia involving bo... |
ORPHA:508533 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity |
OMIM:162370 |
Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... |
OMIM:601808 |
Raine Syndrome |
|
Long hallux, Hydrocephalus, Pulmonary hypoplasia, Brachydactyly, Neonatal death, Bowing of the lo... |
OMIM:259775 |
Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Tapered finger, Clinodactyly of the 4th toe, Ventricular septal defect,... |
OMIM:158170 |
Marcus-Gunn Syndrome |
|
Coloboma, Abnormal heart morphology |
ORPHA:91412 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Micrognathia, Gingival overgrowth, Hearing impairment, Talipes equinov... |
OMIM:209885 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Micrognathia, Flared iliac wing, Epiphyseal stippling, ... |
OMIM:271665 |
Treacher-Collins Syndrome |
|
Conductive hearing impairment, Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Tooth ... |
ORPHA:861 |
Mirage Syndrome |
|
Esophageal stricture, Radial club hand, Short stature, Microphallus, Decreased testicular size, R... |
OMIM:617053 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Overfolded helix, Renal cortical cysts, Low-set ears, Renal insufficiency, Micrognat... |
ORPHA:397715 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
ORPHA:163956 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Macrotia, High palate, Wide mouth, Submucous cleft hard palate, Single transverse palmar crease, ... |
OMIM:618106 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Ischemic stroke, Carotid artery... |
OMIM:208050 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hypoplasia of the radius, Spina bifida, Arrhinencephaly, Hydrocephalus, Hip ... |
ORPHA:3412 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosis, Mi... |
OMIM:616564 |
Retinitis Pigmentosa 51 |
|
Abnormality of the kidney, Polydactyly |
OMIM:613464 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Glossitis, Unilater... |
ORPHA:79284 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Crouzon Syndrome |
|
Conductive hearing impairment, Narrow palate, Narrow internal auditory canal, Hypoplasia of the m... |
ORPHA:207 |
Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:301030 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Insulin-Like Growth Factor I, Resistance To |
|
Patent foramen ovale, Small hand, Ventricular septal defect, Short finger, Clinodactyly, Atrial s... |
OMIM:270450 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorti... |
ORPHA:199296 |
Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation, Thyr... |
ORPHA:672 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Hallux valgus, Azoospermia, Hepatosplenomegaly, Delayed puberty, Growth delay, ... |
ORPHA:2072 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Polycystic kidney dysplasia |
ORPHA:35125 |
Cardiomyopathy, Dilated, 2D |
|
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... |
OMIM:619371 |
Hunter-Macdonald Syndrome |
|
Delayed cranial suture closure, 2-3 toe syndactyly, Pseudoepiphyses, Conductive hearing impairmen... |
OMIM:611962 |
Osteogenesis Imperfecta |
|
Noncommunicating hydrocephalus, Pulmonary hypoplasia, Dislocated radial head, Aortic dissection, ... |
ORPHA:666 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperpla... |
ORPHA:189427 |
Marfan Syndrome |
|
Meningocele, Protrusio acetabuli, Aortic tortuosity, Ascending tubular aorta aneurysm, Limited el... |
ORPHA:558 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Clinodactyly, Clinodactyly of the 5th fin... |
OMIM:614114 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Recurrent aspiration pneumonia, Lateral ventricle dilatation, Single t... |
ORPHA:79243 |
Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Short lingual frenulum, Everted lower lip vermilion, Smoo... |
OMIM:601358 |
Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
Craniolenticulosutural Dysplasia |
|
Delayed closure of the anterior fontanelle, High palate, Long philtrum, Wide mouth, Delayed erupt... |
OMIM:607812 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Delayed cranial suture closure, Conductive hearing impai... |
ORPHA:1606 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Hydrocephalus, Low posterior ha... |
ORPHA:261337 |
Mandibuloacral Dysplasia |
|
Delayed cranial suture closure, High palate, Acroosteolysis of distal phalanges (feet), Micrognat... |
ORPHA:2457 |
Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Narrow internal ... |
ORPHA:233 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Patent ductus arteri... |
ORPHA:2519 |
Dubowitz Syndrome |
|
High palate, Delayed eruption of teeth, Micrognathia, Velopharyngeal insufficiency, Clinodactyly ... |
OMIM:223370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... |
OMIM:253800 |
Restrictive Dermopathy 1 |
|
Overtubulated long bones, Patent ductus arteriosus, Short umbilical cord, Hydropic placenta, Pulm... |
OMIM:275210 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral conductive hearing impairment, Hallux valgus, Microdontia, Cholest... |
OMIM:602535 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Clubbing, Muscular ventricular septal defect, Cardiom... |
ORPHA:439 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short phalanx of finger, Short toe, Dentinogenesis imperfecta, Retrognathia, Sensorineural hearin... |
OMIM:619269 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Open mouth, Ankle clonus, Cryptorchidism |
ORPHA:565624 |
Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... |
OMIM:602875 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Synophrys, Hip dislocation, Clinodactyly of the 5th finger... |
ORPHA:96092 |
Genitopatellar Syndrome |
|
Short phalanx of finger, Hip contracture, Patellar aplasia, Ventricular septal defect, Agenesis o... |
OMIM:606170 |
Chromosome 10Q26 Deletion Syndrome |
|
Patent ductus arteriosus, Toe syndactyly, Clinodactyly of the 5th finger, Atrial septal defect, 2... |
OMIM:609625 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Phocomelia, Split hand, Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Hallux valgus, Dilation of Virchow-Robin spaces, Sec... |
OMIM:619951 |
Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Hyperphalangy of the 2nd finger, Ulnar dev... |
OMIM:616145 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Urinary incontinence, Abnormal finger morphology, Microtia, Thic... |
ORPHA:404448 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Tapered finger, Clinodactyly, Down-sloping shoulders, Renal cyst, Scapular winging |
OMIM:615560 |
Sickle Cell Disease |
|
Splenic infarction, Jaundice, Hematuria, Hepatomegaly, Cholelithiasis, Cardiomegaly, Renal insuff... |
OMIM:603903 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Elbow flexion contracture, Pterygium, Hydroxyprolinuria, Femoral bowing... |
OMIM:609220 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs, Split hand, Finger syndactyly, Brachydactyly |
ORPHA:2145 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Foot polydactyly, Hydrocephalus, Coarctation of aorta, Iris coloboma, ... |
ORPHA:268249 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Sandal gap |
ORPHA:1046 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect, Recurrent aspiration pneumonia, Recurrent pn... |
OMIM:300472 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, Ventricular septal defect, Hyperextensibility of the finger joi... |
OMIM:309520 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Lateral ventricle dilatation, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:620075 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:608629 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Genu valgum, Cleft soft palate, Decreased testicular size, Hepatic steatosis, Hypoplasia of the o... |
OMIM:619321 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Alopecia, Anterior pituitary hypoplasia, Decreased testicular size, Type ... |
ORPHA:453533 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Delayed cranial suture closure, Preaxial hand polydactyly, Exencephaly, Finger syndactyly, Enceph... |
ORPHA:2211 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
High palate, Long philtrum, Palmoplantar hyperhidrosis, Micrognathia, Tented upper lip vermilion,... |
OMIM:617527 |
Grfoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97261 |
Porphyria, Congenital Erythropoietic |
|
Alopecia, Red urine, Joint contracture of the hand, Short stature, Jaundice, Pink urine, Hypertri... |
OMIM:263700 |
Kleefstra Syndrome |
|
Ventricular septal defect, Recurrent respiratory infections, Bicuspid aortic valve, Agenesis of c... |
ORPHA:261494 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Cirrhosis, Proximal tubulopathy, Hyperuricemia, Glycosuria, Jaundice, Hy... |
OMIM:229600 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Humeroradial synostosis, Narrow pelvis bone, Ulnar bowing, Camptodactyly, Atrial septal defect, F... |
OMIM:207410 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Bifid ureter, Delayed eruption of teeth, Toe synda... |
OMIM:305600 |
Q Fever |
|
Endocarditis, Pericardial effusion, Pleural effusion, Pericarditis, Myocarditis, Abnormal heart v... |
ORPHA:781 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Hypothyroidism, Metaphyseal ... |
ORPHA:221008 |
Trisomy 20P |
|
Camptodactyly of finger, Macroorchidism, Hydronephrosis, Preaxial hand polydactyly, Finger syndac... |
ORPHA:261318 |
Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Conductive hearing impairment, Short middle ... |
OMIM:136140 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Narrow mouth, Smoo... |
OMIM:619322 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly, Increased urinary glycerol |
OMIM:229700 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short foot, Small hand, Short stature, Clinodactyly of the 5th finger, Brachy... |
OMIM:300712 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Small hand, Bicuspid aortic valve, Brachydactyly, Short foot |
OMIM:617450 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Sing... |
OMIM:309801 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
De Barsy Syndrome |
|
Delayed closure of the anterior fontanelle, High palate, Coxa vara, Small, conical teeth, Delayed... |
ORPHA:2962 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Coloboma, Mitral valve prolapse, Long hallux, Bowing of the legs, Larg... |
OMIM:617107 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Sparse eyebrow, Hypothyroidism, Multicystic kidney dysplasia, High palate, Tapered finger, Clinod... |
OMIM:618829 |
Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Short toe, Patent ductus arteriosus, Atrial septal defect, Widely spaced to... |
ORPHA:404443 |
White-Sutton Syndrome |
|
Mandibular prognathia, High palate, Sensorineural hearing impairment, Bilateral sensorineural hea... |
OMIM:616364 |
Digeorge Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch,... |
OMIM:188400 |
Blomstrand Lethal Chondrodysplasia |
|
Metaphyseal cupping, Aplastic clavicle, Short metacarpal, Pulmonary hypoplasia, Coarctation of ao... |
ORPHA:50945 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Tapered finger, Hallux valgus, Renal dysplasia, Overlapping toe, Slender finger, Cleft palate, Cy... |
ORPHA:480880 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Large posterior fontanelle, N... |
OMIM:250220 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Acute hepatic failure |
OMIM:616483 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Conductive hearing impairment, Toe syndactyly, Microdontia, Micrognathia, Bifid uvu... |
ORPHA:2363 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Micrognathia, Cleft palate, Cupped ear, Talipes equinovaru... |
OMIM:263650 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Iris coloboma, Optic disc coloboma, Agenesis... |
ORPHA:52055 |
Opsismodysplasia |
|
Short phalanx of finger, Renal phosphate wasting, Metaphyseal cupping, Hypoplastic pubic bone, Sh... |
OMIM:258480 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Calvarial osteosclerosis, Decreased testicular size, Stenosis of ... |
ORPHA:93325 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Short 5th finger, Bulbous tips of toes, Hyperextens... |
ORPHA:163979 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Calcaneovalgus deformity, Genu recurvatum |
OMIM:225320 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteolytic defects of the phalanges of the hand, Elevated hepatic transaminase, Palmoplantar hype... |
OMIM:619127 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Short lower limbs, Secundum atrial septal defect, Abnormal fibular epiphysis morphology |
ORPHA:96190 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Autoamputation of digits... |
OMIM:256810 |
Osteogenesis Imperfecta, Type Xviii |
|
Micrognathia, Femoral bowing, Wormian bones, Bowing of the long bones, Umbilical hernia, Abnormal... |
OMIM:617952 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Short palm, Short foot, Umbilical hernia |
ORPHA:93299 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Retrognathia, Multicystic kidney dysplasia, Hydroureter, Pyloric stenosi... |
ORPHA:2461 |
Yellow Fever |
|
Elevated circulating alanine aminotransferase concentration, Anuria, Pancreatic hyperplasia, Acut... |
ORPHA:99829 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Dicarboxylic ac... |
OMIM:611126 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Frontal balding, Cholelithiasis |
OMIM:160900 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Short foot, Talipes equinovarus |
ORPHA:93298 |
Gaucher Disease Type 3 |
|
Hydrops fetalis, Pericardial effusion, Abnormal heart valve morphology, Aortic valve calcificatio... |
ORPHA:77261 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Alopecia, Hepatic failure, Hypothyroidism, Renal insufficiency, Hyp... |
ORPHA:797 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Clinodactyly, Camptodactyly, Syndactyly, Abnorma... |
ORPHA:369891 |
Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis |
OMIM:156232 |
Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Jaundice, Neonatal hyperbilirubinemia, Cholelithiasis, Prolonged neonatal jau... |
ORPHA:288 |
Ebstein Malformation Of The Tricuspid Valve |
|
Patent ductus arteriosus, Imperforate tricuspid valve, Abnormal cardiac septum morphology, Ebstei... |
ORPHA:1880 |
Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper limb, Ventricular septal defect, Spina bifida, ... |
ORPHA:3380 |
Coffin-Siris Syndrome 12 |
|
Hip subluxation, Hypothyroidism, Delayed cranial suture closure, Micrognathia, Prominent antiheli... |
OMIM:619325 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Delayed cranial suture closure, Thyroid hypoplasia, Large posterior fontanelle, Decreased circula... |
ORPHA:226307 |
Glutaric Acidemia I |
|
Ketonuria, Hypoglycemia, Elevated circulating glutaric acid concentration, Glutaric aciduria, Hep... |
OMIM:231670 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Genu valgum, Broad long bone diaphyses, Tapered finger, Synophrys, Hip dysplasia, Hip dislocation... |
OMIM:301066 |
Chromosome 2Q37 Deletion Syndrome |
|
Short phalanx of finger, Short toe, Sensorineural hearing impairment, Short metacarpal, Short met... |
OMIM:600430 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Abnormal mitral valve morphology, Clinodactyly... |
ORPHA:1292 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta |
OMIM:614857 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Hydroureter, Hypoplasia of the ulna, Renal cyst, Ureteral stenosis, Nephrocalcinosis... |
OMIM:615398 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Patent foramen ovale, Small hand, Abnormal cardiac septum m... |
ORPHA:3310 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, Renal dysplasia, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatars... |
OMIM:107480 |
Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Mandibular prognathia, Tapered finger, Sensorineural hearing impa... |
OMIM:601088 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Lateral ventricle dilatation, Cerebral hemorrhage, Secundum atrial sept... |
OMIM:617397 |
Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Umbilical hernia, Single transverse palmar crease, Atrial septal defect, Muscular ventricular sep... |
OMIM:618354 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Tapered finger, Dilation of Virchow-Robin spaces, Toe syndactyly, Bicuspid aortic valve, Atrial s... |
OMIM:619720 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Renal cyst, Horseshoe kidney, Metaphyseal chondrodysplasia, Brachydactyly, Shor... |
OMIM:250410 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Shoulder girdle muscle weakness |
OMIM:615156 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, Ulnar deviation of the hand ... |
OMIM:208150 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Arachnodactyly, Pulmonary artery aneurysm, Ascending tubular aorta aneurysm... |
OMIM:300989 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septal defec... |
ORPHA:254346 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hypokalemia, Hyperphosphat... |
ORPHA:18 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Aspiration pneumonia, Left ventricular hypertrophy, Dilated cardiomyopathy,... |
OMIM:619167 |
Diamond-Blackfan Anemia 7 |
|
Triphalangeal thumb, Patent ductus arteriosus, Ventricular septal defect, Secundum atrial septal ... |
OMIM:612562 |
Gapo Syndrome |
|
Delayed cranial suture closure, Eruption failure, Delayed closure of the anterior fontanelle, Lon... |
OMIM:230740 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Tapered finger, Cleft soft palate, Delayed eruption of teeth, Micrognathia, Elbo... |
OMIM:619503 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Steinfeld Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Bifid uvula, Media... |
OMIM:184705 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Coloboma, Abnormal finger morphology, Coarctation of aorta |
OMIM:163200 |
Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology, Bowing of the long bones, Coloboma |
ORPHA:199276 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Extrahepatic cholestasis, Elevated alkaline phosphatase of hepatic origin,... |
ORPHA:100086 |
Cardiofaciocutaneous Syndrome |
|
Genu valgum, Macrotia, High palate, Long philtrum, Deep palmar crease, Submucous cleft hard palat... |
ORPHA:1340 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Brachydactyly |
ORPHA:457193 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... |
ORPHA:220460 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Sparse eyebrow, Multicystic kidney dysplasia, High palate, Tapered finge... |
ORPHA:261349 |
Yunis-Varon Syndrome |
|
Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Micrognathia, Hypopl... |
OMIM:216340 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ... |
OMIM:618109 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Toe syndactyly, Hypoplasia of the phalanges of th... |
OMIM:619648 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Micrognathia, Arachnodactyly |
ORPHA:1129 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Pulmonary hypoplasia, Interstitial emphysema, Overlapping fingers, Bilateral tali... |
OMIM:619708 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Vascular dilatation, Abnormal mitral valve morphology, Mitral valv... |
ORPHA:500 |
Lethal Congenital Contracture Syndrome 9 |
|
Ulnar deviation of the hand or of fingers of the hand, Short umbilical cord, Pulmonary hypoplasia... |
OMIM:616503 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... |
ORPHA:1461 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Ventricular septal defect, Atrial septal defect, Recurrent pneumonia, Single ... |
OMIM:616449 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Abnormal pelvic girdle bone morphology, Large fontanelles, Broad long bones,... |
OMIM:166210 |
Wrinkly Skin Syndrome |
|
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Palmoplantar cutis la... |
OMIM:278250 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Patellar dislocation, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, Tarsal stippl... |
OMIM:302960 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased total bilirubin, Abnormal blood potassium concentration, Neonata... |
ORPHA:3202 |
Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, Overfolded helix, High, narrow palate |
ORPHA:209908 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Recurrent urinary tract infections, Malabsorption, Biliary tract abnormality, Ch... |
OMIM:209920 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, ... |
OMIM:154500 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Hip dysplasia, Brachydactyly, Proximal placement of... |
OMIM:619762 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Arachnodactyly, Anterior pituitary hypoplasia, Hallux valgus, Toe syndactyly, Pylori... |
ORPHA:464306 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Optic disc coloboma, Recurrent respiratory infections, Atrial septal de... |
ORPHA:1790 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Palmopl... |
OMIM:605275 |
Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Short stature, Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, De... |
ORPHA:95496 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Patent foramen ovale, Ulnar deviation of the hand or of fingers of the h... |
OMIM:602613 |
Sotos Syndrome |
|
Patent ductus arteriosus, Genu valgum, Ventricular septal defect, Atrial septal defect, Muscular ... |
OMIM:117550 |
Immunodeficiency 59 And Hypoglycemia |
|
High anterior hairline, High palate, Short stature, Malabsorption, Hypoglycemia, Hepatomegaly, Sl... |
OMIM:233600 |
Marfan Syndrome |
|
Aortic root aneurysm, Protrusio acetabuli, Arachnodactyly, Ascending tubular aorta aneurysm, Pneu... |
OMIM:154700 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Clinodactyly, Camptodactyly, Atrial septal defect, Spina bifida occult... |
OMIM:617360 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Lateral ventricle dilatation, Hydrocephalus, Peripheral pulmonary arte... |
OMIM:619575 |
Bloom Syndrome |
|
Agenesis of maxillary lateral incisor, Hand polydactyly, Azoospermia, Clinodactyly of the 5th fin... |
OMIM:210900 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low alkaline phosphatase, Upper limb undergrowth, Congenital megaureter, Renal dysplasia, Slender... |
ORPHA:369837 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery, Aniridia |
ORPHA:1065 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Equinus calcaneus, Hypoparathyroidism, Cholestasis |
ORPHA:746 |
Noonan Syndrome 13 |
|
Tapered finger, Mitral valve prolapse, Clinodactyly, Atrial septal defect, Metatarsus adductus, O... |
OMIM:619087 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:617660 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Polydactyly, Lateral ventricle dilatation, Atrial septal defect, Syndac... |
OMIM:619869 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618835 |
Bruck Syndrome |
|
Wormian bones, Pterygium, Bowing of the long bones, Talipes equinovarus |
ORPHA:2771 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, Clinodactyly, Camptodactyly, Atrial septal defect, Brachydactyly, Talip... |
ORPHA:397709 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Clinodactyly of the 5th f... |
OMIM:618027 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the lungs, Hip dysplasia, Abnormal lung loba... |
ORPHA:2063 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Clinodactyly, Metatarsus adductus, Recurrent uppe... |
ORPHA:293939 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618839 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Ventricular septal defect, Clinodactyly, Dilated cardiomyopathy, Partial duplicati... |
OMIM:618348 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa valga, Coxa vara, Bowing of the legs, Bowing of the arm, Wormian bones |
OMIM:619131 |
Perlman Syndrome |
|
Nephroblastoma, Renal hamartoma, Volvulus, Hypoglycemia, Nephrogenic rest, Cryptorchidism, Viscer... |
OMIM:267000 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Ventricular septal defect, Toe syndactyly, Clinodactyly of the 5th finger, Con... |
ORPHA:217346 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defect, Arrhinencephaly, Ab... |
OMIM:236680 |
Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
Zttk Syndrome |
|
Absent gallbladder, High palate, Small hand, Craniosynostosis, Bifid uvula, Submucous cleft hard ... |
OMIM:617140 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Short umbili... |
ORPHA:1662 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Secundum atrial septal defect, Clinodactyly of the 5th finger, ... |
OMIM:619758 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
3Mc Syndrome 1 |
|
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Caudal appendage, Radiouln... |
OMIM:257920 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Proximal placement of... |
OMIM:610536 |
Donnai-Barrow Syndrome |
|
Iris coloboma, Ventricular septal defect, Umbilical hernia |
ORPHA:2143 |
Cystic Fibrosis |
|
Meconium ileus, Cirrhosis, Biliary cirrhosis, Clubbing of fingers, Steatorrhea, Hepatosplenomegal... |
OMIM:219700 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Cleft soft palate, Microtia, Micrognathia, Submucous cleft soft palate, Hypospadias, Micropenis, ... |
ORPHA:2282 |
Chand Syndrome |
|
Hypohidrosis, Bifid tongue, Commissural lip pit, Hydroureter, Abnormal oral frenulum morphology, ... |
ORPHA:1401 |
Neu-Laxova Syndrome |
|
Spina bifida, Large hands, Pulmonary hypoplasia |
ORPHA:2671 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Tyshchenko Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615102 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Osteogenesis Imperfecta, Type Xx |
|
Retrognathia, Mandibular prognathia, High palate, Narrow palate, Crumpled ear, Agenesis of perman... |
OMIM:618644 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Delayed cranial suture closure, Large fontanelles, Cleft palate, Hearing impairment, Posteriorly ... |
OMIM:601776 |
Penile Agenesis |
|
Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Atrial septal defect, B... |
ORPHA:49 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Pulp calcification, Taurodontia, Decreased renal tubular phosphate excretion, ... |
OMIM:211900 |
Potocki-Lupski Syndrome |
|
Patent foramen ovale, Atrial septal defect |
OMIM:610883 |
Hereditary Spherocytosis |
|
Jaundice, Hyperbilirubinemia, Growth delay, Hepatomegaly, Cholelithiasis, Splenomegaly |
ORPHA:822 |
Lethal Kniest-Like Dysplasia |
|
Abnormality of the ischium, Hypoplastic ilia, Atrial septal defect, Flared metaphysis, Brachydact... |
ORPHA:2347 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect, Agenesis of corpus callosum |
ORPHA:452 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Pigment gallstones, Cholestasis, Increased circulating lactate d... |
ORPHA:232 |
Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Absent thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Atrial s... |
OMIM:603467 |
Al Kaissi Syndrome |
|
Deep palmar crease, Clinodactyly, Small hand, Atrial septal defect |
OMIM:617694 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Clinodactyly, Dilated cardiomyopathy, Partial duplication of thumb pha... |
OMIM:616730 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Mitral atresia, Abnormal cardiac septum morphology, Toe syndactyly, Hypoplasia of the radius, Cli... |
ORPHA:140952 |
Intellectual Disability-Strabismus Syndrome |
|
Patent ductus arteriosus, Congenital finger flexion contractures, Joint contracture of the hand, ... |
ORPHA:363528 |
Degcags Syndrome |
|
Abnormal renal cortex morphology, Polydactyly, Premature graying of hair, Toe syndactyly, Synophr... |
OMIM:619488 |
Periventricular Nodular Heterotopia 9 |
|
Squared superior portion of helix, Tapered finger, High palate, Everted upper lip vermilion, Micr... |
OMIM:618918 |
Diamond-Blackfan Anemia 21 |
|
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Hip dysplasia, ... |
OMIM:620072 |
Tolchin-Le Caignec Syndrome |
|
Macrotia, High palate, Sensorineural hearing impairment, Micrognathia, Submucous cleft hard palat... |
OMIM:618971 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Sensorineural hearing impairment, Right unilambdoid synostosis, S... |
OMIM:616602 |
Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Pulmonic stenosis, Syndactyly, Brachydactyly, Right atrial enlargement, Rig... |
OMIM:616028 |
Visceral Steatosis, Congenital |
|
Renal steatosis, Jaundice, Hepatic steatosis, Hypoglycemia, Hypocalcemia, Neonatal death |
OMIM:228100 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short phalanx of finger, Large knee, Metaphyseal irregularity, Enlargement of the ankles, Irregul... |
ORPHA:99646 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Tapered finger, Micrognathia, Short fourth metatarsal, Slender finger, Smooth philtrum, Uplifted ... |
OMIM:619841 |
Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Cleft upper lip, Intercrural pterygium, Lower lip pit, Cutaneous finger synda... |
OMIM:119500 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Broad thumb, Brachydactyly... |
ORPHA:1770 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Hydrocephalus, Aplasia/Hypoplasia involv... |
ORPHA:3301 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Absent thumb, Abnormality of the upper limb, Abnormality of the thenar emine... |
ORPHA:124 |
Kid Syndrome |
|
Knee flexion contracture, Neoplasm of the tongue, Gingivitis, Angular cheilitis, Coxa valga, Pate... |
ORPHA:477 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Short sternum, Multicystic kidney dysplasia, Short stature, Intrauterine growth r... |
OMIM:257300 |
Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis |
OMIM:606995 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Wide pubic symphysis, Encephalocele, Myelomeningocele, Cutaneous... |
OMIM:219000 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Proximal placement of thumb, Abnormal hip bon... |
ORPHA:1488 |
Okamoto Syndrome |
|
Polydactyly, Hydronephrosis, Macrotia, Urinary incontinence, Low-set ears, Exaggerated median ton... |
ORPHA:2729 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Thick lower ... |
OMIM:610442 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Abnormal pulmonary interstitial morphology, Ventricular septal defect, Abno... |
ORPHA:209905 |
Kabuki Syndrome |
|
Short 5th finger, Small hand, Abnormal cardiac septum morphology, Coloboma, Hydrocephalus, Hip di... |
ORPHA:2322 |
Lathosterolosis |
|
High palate, Bilobate gallbladder, Abnormal circulating cholesterol concentration, Toe syndactyly... |
OMIM:607330 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Short metacarpal, Dilation of Virchow-Robin spaces, Atrial septal defec... |
OMIM:617190 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Tapered finger, Small hand,... |
ORPHA:280633 |
Maternal Phenylketonuria |
|
Bifid distal phalanx of the thumb, Double outlet right ventricle, Ventricular septal defect, Clin... |
ORPHA:2209 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Bifid uvula, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Esophageal atresia, Fused cervical vertebrae, Submucous cleft hard palate, Unilater... |
OMIM:619227 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Coloboma |
OMIM:167730 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Agenesis of corpus callosum, Hip dislocation, Cl... |
OMIM:613884 |
Noonan Syndrome 5 |
|
Cubitus valgus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:611553 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Aqueductal stenos... |
OMIM:619895 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Microcolon, Intestinal malrotation, Cryptorchidism, Me... |
ORPHA:2241 |
Branchio-Oculo-Facial Syndrome |
|
Preaxial hand polydactyly, Multicystic kidney dysplasia, High palate, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Vesicoureteral reflux, Pseudoepiphyses, Conductive hearing impairm... |
OMIM:157800 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Coloboma |
OMIM:617306 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Bladder diverticulum, Hip dislocation, Wo... |
OMIM:617821 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Ventricular septal defect, Atrial septal defect |
OMIM:615879 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Kinked brainstem, Hypoplasia of the brainstem, Coloboma, Hydrocephalus, Meningoencephalocele, Occ... |
OMIM:236670 |
Gitelman Syndrome |
|
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Glucose intolerance, Decreased uri... |
ORPHA:358 |
Filippi Syndrome |
|
Finger syndactyly, Ventricular septal defect, Enlarged epiphyses, Clinodactyly of the 5th toe, Cl... |
ORPHA:3255 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Hypothyroidism, Conductive hearing impairment, Micrognathia, Hypoplasia of proxi... |
ORPHA:444077 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
OMIM:616652 |
Immunodeficiency 49 |
|
Agenesis of corpus callosum, Pulmonary artery stenosis, Umbilical hernia |
OMIM:617237 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
X-Linked Intellectual Disability, Hedera Type |
|
Calcaneovalgus deformity, Hyporeflexia of upper limbs |
ORPHA:93952 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Small earlobe, Humeroradial synostosis, Microtia, Carpal synostosis, Tarsal synostosis |
OMIM:236410 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Atrial septal defect |
ORPHA:79113 |
Monosomy 18Q |
|
Patent ductus arteriosus, Tapered finger, Abnormal palmar dermatoglyphics, Absence of the pulmona... |
ORPHA:1600 |
X Small Rings |
|
Aortic root aneurysm, 2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Ventricular sep... |
ORPHA:96201 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Delayed cranial suture closure, Long philtrum, Wide anterior fontanel, Congenital hip dislocation... |
ORPHA:357058 |
Hereditary Hemorrhagic Telangiectasia |
|
Hepatic failure, Cirrhosis, Hematuria, Intestinal polyposis, Cholecystitis, Esophageal varix, Por... |
ORPHA:774 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceu... |
OMIM:131100 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Encephalocele, Finger syndactyly, Small hand, Finger symphalangi... |
ORPHA:2911 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Anal atresia, Talipes equinovarus, Uraciluria |
OMIM:222748 |
Choanal Atresia |
|
Polydactyly, Craniosynostosis, Chronic sinusitis |
ORPHA:137914 |
Braddock Syndrome |
|
Preaxial hand polydactyly, Unilateral renal agenesis |
ORPHA:52047 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hip dysplasia, Iris coloboma, Abnormal heart morphology, Chorioretinal... |
ORPHA:494344 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Wide penis, Dilatation of renal calices, Short femur... |
ORPHA:3455 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Carpal bone hypoplasia, Abnormal pelvic girdle bone morpho... |
OMIM:601162 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Periodontitis, Hyperextensibility of the finger joints, Camptodactyly, Fem... |
OMIM:231070 |
Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Short 5th finger, Hip dislocation, Atrial septal defect, Coarctati... |
OMIM:300867 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology |
ORPHA:255182 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... |
ORPHA:1727 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Umbilical hernia |
ORPHA:932 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Broad hallux, Cle... |
ORPHA:261537 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Otosclerosis, Femoral bowing present at birth, straightening with time... |
OMIM:166220 |
Hepatocellular Carcinoma |
|
Abnormality of the liver, Hyponatremia, Liver abscess, Hepatic necrosis, Jaundice, Hypokalemia, E... |
ORPHA:88673 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology,... |
ORPHA:512 |
Tukel Syndrome |
|
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
Diamond-Blackfan Anemia 12 |
|
Triphalangeal thumb, Ventricular septal defect |
OMIM:615550 |
Srd5A3-Cdg |
|
Coloboma |
ORPHA:324737 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
2-3 toe syndactyly, Complete duplication of thumb phalanx, Secundum atrial septal defect, Adducte... |
OMIM:619121 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Aplasia/Hypoplasia of the tibia, Encephalocele, Patellar hypoplasia, Preaxial foot p... |
ORPHA:1827 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Recurrent lower respiratory tract infections, Hip dislocation, Atrial s... |
OMIM:618005 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Cubitus valgus, Deep palmar crease, Pulmonic s... |
OMIM:613706 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma |
OMIM:612379 |
Japanese Encephalitis |
|
Distal upper limb muscle weakness, Abnormal substantia nigra morphology, Elbow flexion contractur... |
ORPHA:79139 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Short toe, Mandibular prognathia, Decreased response to growth hormone s... |
ORPHA:280651 |
Posterior Meningocele |
|
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Conductive hearing impairment, High pala... |
ORPHA:2135 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Atrial septal defec... |
OMIM:620024 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Vesicoureteral reflux, Short stature, Microphallus, Clinodactyly of the 5th finger, Supernumerary... |
OMIM:618454 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Short phalanx of finger, Macrotia, Short metacarpal, Abnormal pelvic girdle bone morphology, Broa... |
ORPHA:1422 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Conductive h... |
OMIM:607872 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, ... |
OMIM:617506 |
Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Wide anterior fontanel, Short metacarpal, Femoral retroversion, Radial... |
OMIM:610915 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... |
ORPHA:99094 |
Alazami Syndrome |
|
Slender long bone, Atrial septal defect |
ORPHA:319671 |
Pmm2-Cdg |
|
Hepatic fibrosis, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Craniosynostosis 4 |
|
Retrognathia, Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Ectopic posteri... |
OMIM:600775 |
19P13.3 Microduplication Syndrome |
|
Hip subluxation, Ventricular septal defect, Hip dysplasia, Clinodactyly, Hip dislocation, Long fi... |
ORPHA:447980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Mitral valve prolapse, Prominent fingertip pads, Atrial septal defect, Arachnodactyly |
OMIM:300986 |
Mpdu1-Cdg |
|
Renal cortical cysts, Decreased response to growth hormone stimulation test, Abnormal circulating... |
ORPHA:79323 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Werner Syndrome |
|
Small hand, Abnormal cerebral vascular morphology, Atherosclerosis, Pulmonary artery stenosis, Ro... |
ORPHA:902 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Coloboma, Ventricular septal defect, Agenesis of corpus callosum |
OMIM:206900 |
Menkes Disease |
|
Metaphyseal spurs, Metaphyseal widening, Wormian bones |
OMIM:309400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Wide mouth, Widely spaced teeth, Pineal cyst, Short philtrum, Submucous cleft soft... |
OMIM:300967 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Hyposthenuria, Gonadotropin deficiency, Sparse axillary hair, D... |
ORPHA:91355 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Transposition of the... |
ORPHA:1780 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Pulmonary hypoplasia |
OMIM:615636 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Recurrent upper respiratory tract infections, Clinodactyly of the 5th finger, Coloboma |
ORPHA:2399 |
Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Bronchiectasis, Emphysema |
OMIM:123700 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Patent ductus arteriosus, Aspiration pneumonia, Ventricular septal defec... |
ORPHA:354 |
Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Hip dysplasia, Bicuspi... |
OMIM:610443 |
Microphthalmia, Syndromic 1 |
|
Camptodactyly, Radial deviation of finger, Hearing impairment, Orofacial cleft, Agenesis of maxil... |
OMIM:309800 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Short toe, Tapered finger, Posterior pituitary hypoplasia, Unilateral renal agenesis, Duodenal at... |
ORPHA:464311 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syndactyly, Hip dislo... |
ORPHA:84 |
Short Stature-Micrognathia Syndrome |
|
2-3 toe syndactyly, Broad femoral neck, Coxa valga, Ventricular septal defect, Bowing of the legs... |
OMIM:617164 |
Fanconi Anemia, Complementation Group U |
|
Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, Ectopic kidney, Absent sca... |
OMIM:617247 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Decreased response to growth hormone stimulation... |
ORPHA:1435 |
Cohen Syndrome |
|
Genu valgum, Tapered finger, Finger syndactyly, Ventricular septal defect, Slender toe, Mitral va... |
ORPHA:193 |
Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Delayed closure of the anterior fontanelle, Sensorineural hearing impairme... |
OMIM:618460 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Cubitus valgus, Pul... |
OMIM:610733 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Viss Syndrome |
|
Hypothyroidism, Bifid tongue, Cleft soft palate, Micrognathia, Bifid uvula, Hip dislocation, Subm... |
OMIM:619472 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal finger morphology, Aplasia of the pe... |
ORPHA:3138 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Pulmonary artery aneurysm, Vascular tortuosity, Pulmonary artery dilatation... |
OMIM:614437 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembranous ventricula... |
ORPHA:99095 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Subaortic ventricular septal bulge, Left ventricular hypertrophy, At... |
OMIM:612098 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Pineal cyst, Primary adrenal insufficiency, Everted lower lip vermilion, Testicul... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Pineal cyst, Primary adrenal insufficiency, Everted lower lip vermilion, Testicul... |
ORPHA:363958 |
Addison Disease |
|
Hyperuricemia, Primary testicular failure, Decreased circulating aldosterone level, Sparse axilla... |
ORPHA:85138 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Aspiration pneumonia, Clin... |
ORPHA:1465 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Patent foramen ovale, Short long bone, Atrial septal defect, Brachydactyly, Short palm |
OMIM:619184 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... |
ORPHA:52368 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Genu valgum, Ventricular septal defect, Branchial anomaly, Hydrocephalu... |
OMIM:164210 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Hypoplastic pelvis, Hydrocephalus, Pulmonary hypoplasia |
OMIM:273395 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Toe syndactyly, Camptodactyly of toe, Iris coloboma, Sandal gap, Aniridia |
ORPHA:251038 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Esophageal stricture, Multicystic kidney dysplasia, Abnormal fingertip morpholo... |
ORPHA:79404 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Joint contracture of the hand, Coloboma, Camptodactyly, Clinodactyly o... |
OMIM:309500 |
Alg12-Cdg |
|
Patent ductus arteriosus, Patent foramen ovale, Recurrent respiratory infections, Short long bone... |
ORPHA:79324 |
Diamond-Blackfan Anemia 1 |
|
Triphalangeal thumb, Retrognathia, Absent thumb, Cleft upper lip, High palate, Hypoplastic ilia, ... |
OMIM:105650 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve prolapse, ... |
OMIM:175050 |
Wolf-Hirschhorn Syndrome |
|
Preaxial hand polydactyly, Hypoplastic pubic rami, Abnormal cardiac septum morphology, Aplasia/Hy... |
ORPHA:280 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Otosclerosis, Femoral bowing, Hearing impairment, Wormian bones |
OMIM:166200 |
8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Atrial septal defect, Iris coloboma, Talipes equ... |
ORPHA:251066 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Townes-Brocks Syndrome |
|
Hypothyroidism, Toe syndactyly, Absent toe, Vesicoureteral reflux, Hypoplasia of penis, Partial d... |
ORPHA:857 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Edema, Pleural effusion |
ORPHA:167 |
Proximal Spinal Muscular Atrophy |
|
Distal upper limb muscle weakness, Recurrent aspiration pneumonia, Triceps weakness, Recurrent in... |
ORPHA:70 |
Menkes Disease |
|
Chondrocalcinosis, Malabsorption, Micrognathia, Bladder diverticulum, Wormian bones, Tarsal synos... |
ORPHA:565 |
Mowat-Wilson Syndrome |
|
Asplenia, Conductive hearing impairment, Tapered finger, Hallux valgus, Delayed eruption of teeth... |
ORPHA:2152 |
Hamamy Syndrome |
|
Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Down-sloping shoulders, Atrial sep... |
OMIM:611174 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal aortic valve morphology, Hand polydactyly, Atrial septal defect, Dextrocardia, Abnormal ... |
ORPHA:261197 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Absent mesencephalon, Talipes equinovarus |
OMIM:601374 |
Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Ventricular septal defect, Talipes equinovarus |
OMIM:614961 |
Shigellosis |
|
Hemolytic-uremic syndrome, Hepatic failure, Intestinal perforation, Acute kidney injury, Paralyti... |
ORPHA:810 |
Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steat... |
OMIM:613471 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dilatation of the ventricular cavity, Tapered finger, Ventricular septal defect, Toe syndactyly, ... |
ORPHA:459070 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Abnormal metaphysi... |
ORPHA:667 |
Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect |
OMIM:147770 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Thoracic aortic aneurysm |
OMIM:619351 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Sagittal craniosynostosis, Absent thumb, Low-set ears, Slender long bone, Bif... |
ORPHA:500150 |
Ring Chromosome 13 Syndrome |
|
Urogenital sinus anomaly, Alopecia, Aplasia/hypoplasia involving bones of the hand, Hypoplasia of... |
ORPHA:96176 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Conductive hearing impairment, Cleft soft palate, Talipes equinovarus, Bladder diverticulum, Mixe... |
OMIM:614557 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Premature graying of hair, Papillary renal cell carcinoma, Absent eyelashes... |
ORPHA:363618 |
Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, ... |
ORPHA:2745 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:163961 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Clinodactyly, Camptodactyly, Cone-shaped epiphyses of the phalanges of the hand, Atrial septal de... |
ORPHA:261323 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Retrognathia, Delayed cranial suture closure, Long philtrum, Wide mouth, Hydroureter, Micrognathi... |
ORPHA:2995 |
Myhre Syndrome |
|
Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Patent ductus arteriosus, Ventricular sept... |
OMIM:139210 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Phace Association |
|
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... |
OMIM:606519 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Palmoplantar keratoderma, Recurrent respiratory infections, Ventricular septal... |
OMIM:615508 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Narrow internal auditory canal, Mandibular aplasia, Hypoplasia of penis, Narrow mouth, Microgloss... |
ORPHA:990 |
Wrinkly Skin Syndrome |
|
Delayed closure of the anterior fontanelle, High palate, Coxa vara, Slender long bones with narro... |
ORPHA:2834 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Broad hallux, Dup... |
ORPHA:261552 |
Aicardi-Goutieres Syndrome 7 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Edema, Oligohydramnios |
OMIM:615846 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Abnormality of the upper limb, Abnormal aortic morphology, Abnormal ... |
ORPHA:1052 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Microdontia, Micrognathia, Peg-shap... |
OMIM:610706 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Short stature, Renal dysplasia, Renal cyst... |
OMIM:617260 |
Weill-Marchesani Syndrome 2 |
|
Umbilical hernia, Patent ductus arteriosus, Broad phalanges of the hand, Ventricular septal defec... |
OMIM:608328 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Camptodactyly, Clinodactyly of the 5th ... |
OMIM:619123 |
Donnai-Barrow Syndrome |
|
Short sternum, Ventricular septal defect, Agenesis of corpus callosum, Iris coloboma, Partial age... |
OMIM:222448 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Patent ductus arteriosus, Secundum atrial septal defect, Clinodactyly, Cor triatriatum, Prominent... |
OMIM:612541 |
Proteus Syndrome |
|
Metatarsus valgus, Hallux valgus, Hip dislocation, Abnormality of the wrist, Long penis, Upper li... |
ORPHA:744 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Coronal craniosynostosis, Microdontia, Micrognathia, Wormian bones, Or... |
OMIM:112240 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries, Hypoglycemia, Hepatomegaly, Cardiomegaly, Cleft palate |
ORPHA:137675 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cirrhosis, Hepatic failure, Abnormal circulating lipid concentration, Short stature, Hypersplenis... |
ORPHA:77293 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Renal hypoplasia/aplasia, Abnormality of the... |
ORPHA:3186 |
Mogs-Cdg |
|
Pulmonary edema, Left ventricular hypertrophy, Atrial septal defect, Overlapping fingers, Cardiom... |
ORPHA:79330 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Broad phalanges of the hand, Ventricular septal defect, Broad metatarsa... |
OMIM:277600 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Autosomal Dominant Keratitis |
|
Coloboma, Aniridia |
ORPHA:2334 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Umbilical hernia, Large placenta |
ORPHA:254534 |
Neuromuscular Oculoauditory Syndrome |
|
Wrist flexion contracture, Elevated circulating creatine kinase concentration, Reduced renal cort... |
OMIM:618733 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Metaphyseal dysplasia, Atrial septal defect |
ORPHA:1667 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Dysplastic corpus callosum, Recurrent pneumonia |
OMIM:619179 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Synophrys, Hip dislocation, Elbow dislocation, Cleft palate, Thick eyebrow, Vesic... |
ORPHA:199 |
Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Short toe, Finger syndactyly, Ventricular septal defect, Clinodactyly o... |
ORPHA:1519 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Short long bone, Bowed humerus, Brachydactyly, Trident pelvis, Short hum... |
OMIM:619479 |
Johnson Neuroectodermal Syndrome |
|
Cleft palate, Preaxial hand polydactyly, Hand polydactyly |
ORPHA:2316 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Pneumothorax, Camptodactyly, Ascending aortic dissect... |
OMIM:613795 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Tapered finger, Ventricular septal defect, Camptodactyly, Hip dislocation, Atrial sept... |
OMIM:613458 |
Renal Agenesis, Bilateral |
|
Sirenomelia, Pulmonary hypoplasia |
ORPHA:1848 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septal defect, Metatarsus adduc... |
OMIM:244450 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Radial club hand |
ORPHA:3305 |
Dpagt1-Cdg |
|
Clinodactyly, Camptodactyly, Intracranial hemorrhage, Pulmonary hypoplasia, Stroke-like episode, ... |
ORPHA:86309 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Dextrocardia, Atrial septal defect, Talipes equinovarus |
OMIM:277380 |
Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse,... |
OMIM:609942 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Coloboma |
ORPHA:2874 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal hip bone morphology, Hydrocephalus, Abnormal brainstem morphology, Arachnodactyly |
ORPHA:2720 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Hand clenching, Pneumothorax, Hip dysplasia, Mitral valve prolapse, Atrial septal defect, Biventr... |
OMIM:617402 |
Lymphangioleiomyomatosis |
|
Ascites, Chylopericardium, Chylothorax, Lymphedema |
ORPHA:538 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Hallux valgus, Finger joint hypermobility, Lateral ventricle dilatation, Ao... |
OMIM:617557 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Aminoaciduria, Camptodactyly of finger, Elevated maternal serum alpha-fetoprotein... |
OMIM:309000 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Dilatation of the ventricular cavity, Pneumothorax, Vascular dilatation, Hip dislocation, Emphyse... |
ORPHA:90349 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:602482 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Hypoplasia of penis, Failure of eruption of permanent t... |
ORPHA:2250 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Ventricular septal defect, Spina bifida, Clinodactyly of the 5th f... |
ORPHA:1393 |
Dysosteosclerosis |
|
Abnormal metaphysis morphology, Coarse metaphyseal trabecularization, Ventricular septal defect |
ORPHA:1782 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Clinodactyly, Abnormal 5th finger morphology, Syndactyly, Symphala... |
ORPHA:1439 |
Prader-Willi Syndrome Due To Translocation |
|
Patent ductus arteriosus, Patent foramen ovale, Small hand, Recurrent respiratory infections, Lat... |
ORPHA:177907 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Palmoplantar keratoderma, Ventricular septal defect |
OMIM:106260 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
Radio-Tartaglia Syndrome |
|
Tapered finger, Ventricular septal defect, Agenesis of corpus callosum, Brachydactyly |
OMIM:619312 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Dilation of Virchow-Robin spaces, Hydrocephalus, Clinodactyly of the 5th fin... |
OMIM:619512 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal midbrain morphology, ... |
ORPHA:68 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Hypokalemia, Adren... |
ORPHA:786 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia |
OMIM:251290 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymph... |
OMIM:235255 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Long philtrum, Thick lower lip vermilion, Narrow mouth, Mesiodens, Short ear |
ORPHA:314647 |
Retinitis Pigmentosa 74 |
|
Polydactyly, Abnormal renal morphology |
OMIM:616562 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Nestor-Guillermo Progeria Syndrome |
|
Dental malocclusion, Delayed closure of the anterior fontanelle, Limited elbow movement, Microgna... |
OMIM:614008 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... |
OMIM:618748 |
Fraser Syndrome |
|
Wide pubic symphysis, Finger syndactyly, Encephalocele, Myelomeningocele, Toe syndactyly, Abnorma... |
ORPHA:2052 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Hip dislocation, Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Post... |
OMIM:601803 |
Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Ventricular septal defect, Long toe, Arachnodactyly, Umbilical hernia, T... |
ORPHA:96129 |
Noonan Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pulmonary valve morphology, Pulmo... |
ORPHA:648 |
Legius Syndrome |
|
Polydactyly, Ovarian neoplasm, Clinodactyly of the 5th finger, Vestibular schwannoma, Male urethr... |
ORPHA:137605 |
Spondyloocular Syndrome |
|
Dysplastic aortic valve, Mitral valve prolapse, Atrial septal defect, Overlapping toe, Long toe, ... |
OMIM:605822 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormality of secondary sexual hair, Polydactyly, Anterior pituitary hypoplasia, Decreased respo... |
ORPHA:95494 |
Cerebrotendinous Xanthomatosis |
|
Xanthelasma, Cholelithiasis, Abnormal circulating cholesterol concentration |
OMIM:213700 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... |
OMIM:618223 |
Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:98755 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Triosephosphate Isomerase Deficiency |
|
Jaundice, Cholecystitis, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly |
OMIM:615512 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Pulmonary artery sling... |
OMIM:235730 |
Charge Syndrome |
|
Delayed eruption of teeth, Anterior hypopituitarism, Abnormal soft palate morphology, Cleft palat... |
ORPHA:138 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Ascending tubular aorta aneurysm, Pneumothorax, Hypoplastic right heart, Hip dysplasia, Camptodac... |
OMIM:617403 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Aortic aneurysm, Atrial septa... |
ORPHA:96121 |
Tuberous Sclerosis 1 |
|
Hypothyroidism, Renal angiomyolipoma, Adenoma sebaceum, Renal cell carcinoma, Preauricular hair d... |
OMIM:191100 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Unilateral renal agenesis, Broad hallux, Prominent... |
ORPHA:457284 |
Neuroocular Syndrome |
|
Tapered finger, Torus palatinus, Scapular winging, Deep palmar crease, Cupped ear, Genu recurvatu... |
OMIM:619539 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Chylothorax, Tetralogy of Fallot, Varicose v... |
OMIM:153400 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Frontometaphyseal Dysplasia 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Hip contracture, Short metacarpal, Bicuspid aorti... |
OMIM:617137 |
Beck-Fahrner Syndrome |
|
Hip dysplasia, Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Clubbing of fingers, Atrial septal defect, Broad thumb, Midclavicular h... |
ORPHA:79076 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones |
OMIM:259410 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hip dysplasia, Right ventricular hypertrophy, Ventricular septal defect |
OMIM:613404 |
Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Atrial septal defect... |
OMIM:619268 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Genu valgum, Ventricular septal defect, Coloboma, Bicuspid aortic valve, Hydrocephalus, Aortic an... |
OMIM:619475 |
Lymphatic Malformation 6 |
|
Atrial septal defect, Pleural effusion, Chylothorax, Varicose veins, Intestinal lymphangiectasia |
OMIM:616843 |
Kohlschutter-Tonz Syndrome-Like |
|
2-3 toe syndactyly, Small hand, Ventricular septal defect, Lateral ventricle dilatation, Sandal g... |
OMIM:619229 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Left ventricular hypertrophy, Ventricular septal defect, Patent forame... |
OMIM:615474 |
Turnpenny-Fry Syndrome |
|
Short sternum, Patent ductus arteriosus, Tapered finger, Small hand, Recurrent respiratory infect... |
OMIM:618371 |
Distal Monosomy 6P |
|
Short foot, Clinodactyly of the 5th finger, Atrial septal defect, Abnormal epiphysis morphology, ... |
ORPHA:96125 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ulnar deviation of finger, Hypertrophic cardiom... |
ORPHA:3071 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Conductive hearing impairment, Humeroradial synostosis, Vesicovaginal fistula, Adrenal insufficie... |
OMIM:201750 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Arboleda-Tham Syndrome |
|
Patent ductus arteriosus, Genu varum, Deviation of the hallux, Genu valgum, Upper limb amyotrophy... |
OMIM:616268 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, Caudal appendage, Talipes equinovarus, Camptodactyly, Metatarsus adduc... |
OMIM:272950 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Bifid uvula, Cyst of the ductus choledochus, Tapered finger |
OMIM:619480 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Short stature, Posterior pituitary hypoplasia, Hyperbilirubinemia, Neonatal hypoglycemia, Ectopic... |
OMIM:613986 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Patent ductus arteriosus, Patent foramen ovale, Single transverse palmar crease, Recurrent respir... |
OMIM:618076 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Dextrocar... |
OMIM:614294 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Robinow Syndrome |
|
Bifid distal phalanx of the thumb, Pulmonary valve atresia, Radioulnar dislocation, Ventricular s... |
ORPHA:97360 |
Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
Wolf-Hirschhorn Syndrome |
|
Preaxial hand polydactyly, Ventricular septal defect, Pseudoepiphyses of the metacarpals, Preaxia... |
OMIM:194190 |
Microsporidiosis |
|
Prostatitis, Abnormality of the urinary system physiology, Hepatitis, Peritonitis, Thyroiditis, G... |
ORPHA:2552 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Bronchiectasis, Aortic aneurysm, Hip dislocation, Emphysema... |
ORPHA:90348 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Hip dysplasia, Dilated cardiomyopathy, Proximal placement of thumb, Co... |
ORPHA:261250 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Pancreatic calcification, Stippled calcification of the shoulder, Conductive he... |
ORPHA:51608 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Atrial septal defect |
ORPHA:2728 |
Orotic Aciduria |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Hughes-Stovin Syndrome |
|
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis |
ORPHA:228116 |
Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
Tenorio Syndrome |
|
Delayed cranial suture closure, Recurrent aphthous stomatitis, Mandibular prognathia, Wide mouth,... |
OMIM:616260 |
Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Tortuous cerebral arteries, Celiac artery dissection, Arterial fibromu... |
OMIM:619329 |
47,Xyy Syndrome |
|
Finger clinodactyly, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:8 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect |
OMIM:610832 |
Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Hol... |
ORPHA:63259 |
Coffin-Siris Syndrome 1 |
|
Short sternum, Patent ductus arteriosus, Coxa valga, Ventricular septal defect, Recurrent respira... |
OMIM:135900 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology |
ORPHA:79279 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Recurrent upper and lower respiratory tract ... |
ORPHA:79329 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
2-3 toe syndactyly, Thin upper lip vermilion, Smooth philtrum, Bilateral talipes equinovarus, Equ... |
ORPHA:522077 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Patent ductus arteriosus, Hyperextensibility of the finger joints, Recurrent sinusitis, Atrial se... |
OMIM:213980 |
C Syndrome |
|
Multicystic kidney dysplasia, High palate, Abnormality of the anus, Short stature, Renal hypoplas... |
ORPHA:1308 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion |
ORPHA:91347 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Aniridia |
OMIM:610256 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Williams Syndrome |
|
Peptic ulcer, Abnormal circulating lipid concentration, Hypothyroidism, Colonic diverticula, Hall... |
ORPHA:904 |
Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Hip dysplasia, Chronic kidney disease, Gastric ulcer |
OMIM:208060 |
Noonan Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Atrial septal defect, Coarctat... |
OMIM:163950 |
Neurofibroma |
|
Multiple intestinal neurofibromatosis, Abnormal biliary tract morphology, Intestinal bleeding, Pa... |
ORPHA:252183 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI |
OMIM:619306 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Hip dislocation, Postaxial hand polydactyly, Cleft palate, Ectrodactyly, Atrichi... |
OMIM:308205 |
Mucolipidosis Type Ii |
|
Patent foramen ovale, Hip contracture, Abnormal long bone morphology, Abnormal mitral valve morph... |
ORPHA:576 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Coxa valga, Tapered finger, Ventricular septal defect, Perimembranous ventricular septal defect, ... |
OMIM:301040 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Small hand, Hip dysplasia, Atrial septal defect, Short foot |
ORPHA:398069 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect |
ORPHA:369929 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Costello Syndrome |
|
Lymphangiectasis, Pneumothorax, Limited elbow movement, Hyperextensibility of the finger joints, ... |
OMIM:218040 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hip subluxation, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Agene... |
OMIM:613457 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle |
OMIM:610188 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Ulnar-Mammary Syndrome |
|
Short 5th toe, Aplasia of the 3rd finger, Aplasia of the 5th metacarpal, Deformed radius, Short 5... |
OMIM:181450 |
Tuberous Sclerosis 2 |
|
Hypothyroidism, Renal angiomyolipoma, Adenoma sebaceum, Renal cell carcinoma, Absence of renal co... |
OMIM:613254 |
Ctcf-Related Neurodevelopmental Disorder |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Pulmonary hemorrhage, Recurrent lower respiratory t... |
ORPHA:363611 |
Cutis Marmorata Telangiectatica Congenita |
|
Abnormality of the upper limb, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, S... |
ORPHA:1556 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hallux valgus, Ventricular septal defect, Ebstein... |
ORPHA:466791 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
OMIM:600092 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:181000 |
Hypermobile Ehlers-Danlos Syndrome |
|
Gingivitis, Joint dislocation, Malabsorption, Microdontia, Osteoarthritis, Hip dislocation, Abnor... |
ORPHA:285 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Branchiooculofacial Syndrome |
|
Preaxial hand polydactyly, Premature graying of hair, Postnatal growth retardation, Pyloric steno... |
OMIM:113620 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulatio... |
ORPHA:273 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Agenesis of corpus callosum |
OMIM:615802 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Ventricular septal defect |
OMIM:234050 |
Crimean-Congo Hemorrhagic Fever |
|
Pericardial effusion, Ascites, Myocarditis |
ORPHA:99827 |
Kabuki Syndrome 1 |
|
Short 5th finger, Ventricular septal defect, Recurrent aspiration pneumonia, Lateral ventricle di... |
OMIM:147920 |
Trichothiodystrophy 2, Photosensitive |
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Agenesis of maxillary lateral incisor |
OMIM:616390 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary airway malforma... |
OMIM:243150 |
Oculoectodermal Syndrome |
|
Patent ductus arteriosus, Transient ischemic attack, Atrial septal defect, Coarctation of aorta, ... |
OMIM:600268 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
Arnold-Chiari Malformation Type Ii |
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Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis |
ORPHA:1136 |
Eisenmenger Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Aortopulmonary w... |
ORPHA:97214 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Slender long bone, Coxa valga, Proximal placement of thumb, Ventricular septal defect |
OMIM:212066 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Abnormal testis morphology |
ORPHA:791 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
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Atrial septal defect |
ORPHA:93947 |
Vici Syndrome |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Atrial septal defect, Recurrent respiratory... |
OMIM:242840 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Unilateral Polymicrogyria |
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Pulmonary arteriovenous malformation, Stroke, Abnormal heart morphology |
ORPHA:268943 |
Pelvis-Shoulder Dysplasia |
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Spina bifida, Hydranencephaly, Hydrocephalus |
ORPHA:2839 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Ramos-Arroyo Syndrome |
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Patent ductus arteriosus, Atrial septal defect |
ORPHA:1051 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Atrioventricular Septal Defect 4 |
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Primum atrial septal defect |
OMIM:614430 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Patent foramen ovale, Genu valgum, Ventricular septal defect, Mitral valve prolapse, Hydrocephalu... |
ORPHA:363700 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Patent foramen ovale |
ORPHA:542306 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Arterioven... |
OMIM:610655 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Cubitus valgus, Dee... |
OMIM:607721 |
Goldberg-Shprintzen Syndrome |
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Tapered finger, Small hand, Ventricular septal defect, Clinodactyly of the 5th finger, Increased ... |
OMIM:609460 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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2-3 toe syndactyly, 3-4 finger syndactyly, Coloboma |
OMIM:615877 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Patent foramen ovale, Tapered finger, Clinodactyly of the 5th finger, Brachydactyly, Short thumb,... |
ORPHA:477993 |
Familial Cerebral Saccular Aneurysm |
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Abnormal brainstem morphology |
ORPHA:231160 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Sparse eyebrow, Synophrys, Broad eyebrow, Long eyelashes, Renal cyst, Anteriorly placed anus, Hyp... |
ORPHA:495875 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI |
OMIM:619476 |
Williams-Beuren Syndrome |
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Coronary artery stenosis, Hallux valgus, Ventricular septal defect, Bicuspid aortic valve, Mitral... |
OMIM:194050 |
Microphthalmia, Syndromic 5 |
|
Coloboma |
OMIM:610125 |
Tbck-Related Intellectual Disability Syndrome |
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2-3 toe syndactyly, Ventricular septal defect, Clinodactyly, Broad finger, Broad toe, Pulmonic st... |
ORPHA:488632 |
Diamond-Blackfan Anemia 10 |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Patent ductus arteriosus, Hip contracture, Lateral ventricle dilatation, Elbow flexion contractur... |
OMIM:300868 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the brainstem, Hydrocephalus, Coloboma |
OMIM:253280 |
Waardenburg Syndrome, Type 2E |
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Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... |
OMIM:611584 |
Cerebrotendinous Xanthomatosis |
|
Hypothyroidism, Abnormality of the elbow, Abnormal finger morphology, Abnormality of tibia morpho... |
ORPHA:909 |
Trichothiodystrophy |
|
Ventricular septal defect, Recurrent bronchopulmonary infections, Clubbing, Partial agenesis of t... |
ORPHA:33364 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Short femur |
OMIM:617798 |
Atrioventricular septal defect 3 |
|
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Single transverse palmar crease, Small hand, Ventricular septal hypertrophy, Ventricular septal d... |
OMIM:614947 |
Witteveen-Kolk Syndrome |
|
Growth delay, Branchial fistula, Intrauterine growth retardation, Short stature |
OMIM:613406 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Atrial septal defect |
OMIM:618891 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Premature arteriosclerosis, Coronary artery athe... |
ORPHA:79474 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly, Iris coloboma, Cyclopia, ... |
ORPHA:141099 |
Vascular Ehlers-Danlos Syndrome |
|
Pulmonary artery aneurysm, Pneumothorax, Ascending tubular aorta aneurysm, Vascular dilatation, A... |
ORPHA:286 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Complete duplication of thumb phalanx, Ventricular septal defect, Absent radius, Sh... |
OMIM:227645 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Dilated cardiomyopathy, Concentric hypertrophic c... |
OMIM:610505 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Patent ductus arteriosus, Short 5th finger, Tapered finger, Ventricular septal defect, Short fing... |
OMIM:619522 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Brachydactyly |
ORPHA:293987 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Pulmonary ... |
OMIM:187300 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Aspiration pneumonia, Ventricular septal defect, ... |
ORPHA:438213 |
Opitz Gbbb Syndrome |
|
Agenesis of corpus callosum, Ventricular septal defect, Umbilical hernia |
OMIM:300000 |
Immunodeficiency 87 And Autoimmunity |
|
Atrioventricular canal defect, Dilated cardiomyopathy, Atrial septal defect, Pleural effusion, Bi... |
OMIM:619573 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Patent foramen ovale, Bronchiectasis, Carotid artery dilatation, Recurrent upper respiratory trac... |
ORPHA:391487 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormal mitral valve morphology, Clinodactyly, Down-sloping shoulders... |
ORPHA:1724 |
Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Ventricular septal defect, Short palm, 3-4 finger syndactyly, Metaphyseal dys... |
OMIM:619727 |
Diets-Jongmans Syndrome |
|
Hip dysplasia, Interrupted inferior vena cava with azygous continuation, Ventricular septal defec... |
OMIM:618846 |
Wiedemann-Rautenstrauch Syndrome |
|
Genu varum, Hypoplastic ilia, Large hands, Recurrent respiratory infections, Slender long bone, S... |
OMIM:264090 |
Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Clinodactyly of the 5th... |
OMIM:616682 |
Proximal Renal Tubular Acidosis |
|
Subvalvular aortic stenosis, Coloboma |
ORPHA:47159 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Agenesis of corpus callosum |
ORPHA:506 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect, Umbilical hernia |
ORPHA:96191 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Ventricular septal defect, Talipes equinovarus |
OMIM:614653 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Decreased testicular size, Elevated circulating creatine kinase con... |
OMIM:615287 |
Medulloblastoma |
|
Delayed cranial suture closure, Vertigo, Adenomatous colonic polyposis, Bilateral sensorineural h... |
ORPHA:616 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Pleural effusion, Chylothorax, Atrial septal defect |
ORPHA:2526 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Subarachnoid hemorrhage, Gastrointestinal telangiectasia, Hepatic arteriovenous malformation, Isc... |
OMIM:600376 |
Holoprosencephaly 2 |
|
Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ... |
OMIM:157170 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele |
ORPHA:93929 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Short finger, Broad finger, Broad phalanx of the toes, Umbilical hernia |
ORPHA:1934 |
Leigh Syndrome With Cardiomyopathy |
|
Abnormal brainstem morphology |
ORPHA:70474 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Diphallia |
|
Abnormal heart morphology, Absent thumb, Abnormality of the pubic bone, Atrial septal defect |
ORPHA:227 |
Sotos Syndrome |
|
Patent ductus arteriosus, Bilateral camptodactyly, 2-3 toe syndactyly, Hip contracture, Ventricul... |
ORPHA:821 |
Gangliocytoma |
|
Abnormal brainstem morphology |
ORPHA:251937 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration, Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Hallux valgus, Finger joint hypermobility, Ebstein anomaly of the tricuspid... |
ORPHA:506358 |
Bosma Arhinia Microphthalmia Syndrome |
|
Coloboma |
OMIM:603457 |
Neurofibromatosis-Noonan Syndrome |
|
Cubitus valgus, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Norrie Disease |
|
Macrotia, Sensorineural hearing impairment, Abnormal cochlea morphology, Cryptorchidism, Thin ver... |
ORPHA:649 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Hip dysplasia, Metatarsus adductus, Osteopathia striata, Right aortic ... |
ORPHA:513456 |
Tick-Borne Encephalitis |
|
Vertigo, Abnormality of the vestibular nerve, Tinnitus, Tongue fasciculations, Hearing impairment |
ORPHA:297 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Lateral ventricle dilatation |
OMIM:300896 |
Johanson-Blizzard Syndrome |
|
Vascular dilatation, Ventricular septal defect, Clinodactyly of the 5th finger, Dilated cardiomyo... |
OMIM:243800 |
Holoprosencephaly 7 |
|
Hydrocephalus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ho... |
OMIM:610828 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Metaphyseal widening, Tibial bowing |
OMIM:259770 |
Juvenile Polyposis Syndrome |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
ORPHA:2929 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pleural effusion, Pulmonary arteriovenous malformation, Spontaneous pneumothorax |
OMIM:606721 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Neural tube defect |
ORPHA:93924 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology |
ORPHA:93256 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Occipital meningocele |
OMIM:267750 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus, Abnormal heart morphology |
ORPHA:322 |