Crigler-Najjar Syndrome Type 2 |
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Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Genitopalatocardiac Syndrome |
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Double outlet right ventricle, Ventricular septal defect, Renal cyst, Hypospadias, Right aortic a... |
OMIM:231060 |
Jaundice, Familial Obstructive, Of Infancy |
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Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
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Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
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Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
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Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Cysteine Peptiduria |
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Abnormal circulating glycine concentration, Abnormal circulating cysteine concentration |
OMIM:219550 |
Sarcosinemia |
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Hypersarcosinemia |
OMIM:268900 |
Maple Syrup Urine Disease, Mild Variant |
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Hyperisoleucinemia, Hyperleucinemia |
OMIM:615135 |
Schizophrenia 4 |
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Hyperprolinemia |
OMIM:600850 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
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Right aortic arch with mirror image branching |
OMIM:107500 |
Glutathione Peroxidase Deficiency |
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Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
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Conjugated hyperbilirubinemia |
OMIM:237450 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
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Unconjugated hyperbilirubinemia |
OMIM:218800 |
Tricuspid Atresia |
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Cyanosis, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of a... |
ORPHA:1209 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Hypercholanemia, Familial, 2 |
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Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Comm... |
OMIM:616749 |
Nephronophthisis 16 |
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Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... |
OMIM:615382 |
Heterotaxy, Visceral, 4, Autosomal |
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Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... |
OMIM:613751 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Patent ductus arteriosus, Cyanosis, Levotransposition of the great arteries, Ventricular septal d... |
ORPHA:860 |
Congenital Heart Defects, Multiple Types, 7 |
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Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... |
OMIM:618780 |
Conotruncal Heart Malformations |
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Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
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Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... |
OMIM:601668 |
Carabelli Anomaly Of Maxillary Molar Teeth |
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Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Anonychia-Microcephaly Syndrome |
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Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Carious teeth, Aplast... |
ORPHA:1094 |
Congenital Heart Defects, Multiple Types, 6 |
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Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
Congenital Radioulnar Synostosis |
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Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Heterotaxy, Visceral, 6, Autosomal |
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Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Meacham Syndrome |
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Aplasia of the left hemidiaphragm, Ventricular septal defect, Atrial septal defect, Aplasia of th... |
OMIM:608978 |
Cleft-Limb-Heart Malformation Syndrome |
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Truncus arteriosus |
OMIM:215850 |
Robin Sequence-Oligodactyly Syndrome |
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Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
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Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Neonatal Hemochromatosis |
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Prominent nose, Micrognathia, Anteverted nares, Prolonged neonatal jaundice, Congenital hepatic f... |
ORPHA:446 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Cyanosis, Webbed neck, Truncus arteriosus, Ventricular septal defect, Death in infancy, Interrupt... |
OMIM:617478 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
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Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
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Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
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Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... |
OMIM:618845 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Unilateral renal agenesis, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Aorta Coarctation |
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Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... |
ORPHA:1457 |
Metaphyseal Anadysplasia |
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Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Macular hyperpigmented dermopathy, Coarse metaphyseal trabecularization, Abnormal pelvic girdle b... |
ORPHA:2779 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
Heterotaxy, Visceral, 12, Autosomal |
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Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Filippi Syndrome |
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Decreased body weight, Wide nasal bridge, Microdontia, Abnormality of dental morphology, Hypodont... |
OMIM:272440 |
Nephronophthisis 14 |
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Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
Partial Atrioventricular Septal Defect |
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Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Cardiac Septal Defects With Coarctation Of The Aorta |
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Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Ulna Metaphyseal Dysplasia Syndrome |
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Abnormality of fibula morphology, Microdontia, Abnormality of dental morphology, Abnormal metacar... |
ORPHA:1837 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Renal... |
OMIM:173900 |
Right Atrial Isomerism |
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Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Tetralogy... |
OMIM:208530 |
Red Cell Phospholipid Defect With Hemolysis |
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Hyperbilirubinemia |
OMIM:179700 |
Cayler Cardiofacial Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Oligodontia |
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Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Congenital Heart Defects, Multiple Types, 5 |
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Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate |
ORPHA:2015 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Gilbert Syndrome |
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Unconjugated hyperbilirubinemia |
OMIM:143500 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Cyanosi... |
ORPHA:99050 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
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Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplas... |
ORPHA:2516 |
Temtamy Preaxial Brachydactyly Syndrome |
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Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... |
ORPHA:363417 |
Truncus Arteriosus |
|
Cyanosis, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted a... |
ORPHA:3384 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Glycogen Storage Disease Iii |
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Hepatic fibrosis, Elevated hepatic transaminase, Thin upper lip vermilion, Depressed nasal bridge... |
OMIM:232400 |
Rubinstein-Taybi Syndrome 2 |
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Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Narrow palate, Short first metatars... |
OMIM:613684 |
Incisors, Shovel-Shaped |
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Shovel-shaped maxillary central incisors |
OMIM:147400 |
Renal Tubular Dysgenesis |
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Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis |
ORPHA:3033 |
Long Qt Syndrome 16 |
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Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
17Q21.31 Microduplication Syndrome |
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High palate, Micrognathia, Short philtrum, Short nose, Anteverted nares, Malar flattening, Abnorm... |
ORPHA:217340 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Urethral stenosis, Te... |
ORPHA:1727 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Ectopic kidney, Abnormal hea... |
ORPHA:401935 |
Symbrachydactyly Of Hands And Feet |
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Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... |
ORPHA:1570 |
Autosomal Dominant Coarctation Of Aorta |
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Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Dentin Dysplasia, Type I |
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Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Short metacarpal, Deep philtrum, Microdontia, Synophrys, Clinodactyly, Radioulnar syn... |
OMIM:605282 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Dou... |
OMIM:306955 |
Acrorenal Syndrome |
|
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Wide nasal bridge, Brittle hair, Hypodontia, Brittle scalp hair, Abnormality o... |
OMIM:262020 |
Distal Trisomy 14Q |
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Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract |
ORPHA:1705 |
Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos... |
ORPHA:1248 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:620010 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Short columella, Depressed nasal bridge, Short nose |
OMIM:155050 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Wide nasal bridge, Elbow dislocation, Hypoplastic finger... |
ORPHA:240 |
Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... |
ORPHA:185 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Metaphyseal chondrodysplasi... |
ORPHA:2501 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, High palate, Short femoral neck, Abnormal carpal morphology, Ul... |
ORPHA:2632 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Abnormal metacarpal morphology, Abnormal morphology of ulna, Abnormal hair quantity,... |
ORPHA:2233 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Double Outlet Right Ventricle |
|
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctati... |
ORPHA:3426 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia |
OMIM:617577 |
Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... |
ORPHA:1447 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Renal malrotation, Hypop... |
OMIM:601186 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Microphallus |
OMIM:615542 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... |
OMIM:601927 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
Acrodysostosis |
|
Short toe, Mandibular prognathia, Melanocytic nevus, Short metacarpal, Delayed eruption of teeth,... |
ORPHA:950 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Med... |
ORPHA:1832 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Micrognathia, Sparse eyelashes, Abnormal dental enamel morphology, Abn... |
OMIM:257850 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Broad nasal tip, Anteverted n... |
ORPHA:1193 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, High palate... |
OMIM:127300 |
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 |
Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... |
ORPHA:2019 |
Absence Of The Pulmonary Artery |
|
Patent ductus arteriosus, Cyanosis, Hypocapnia, Patent foramen ovale, Cardiomegaly, Truncus arter... |
ORPHA:980 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Arterial fibromuscular dysplasia, Renovascular hypertension, Stroke |
OMIM:135580 |
Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Long philtrum, Deep philtrum, Prominence of the premaxilla, Short nose, Evert... |
OMIM:137550 |
Clark-Baraitser syndrome |
|
Genu valgum, Tapered finger, Exaggerated median tongue furrow, Prominent median palatal raphe, Th... |
OMIM:300602 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... |
OMIM:249670 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata, Atrial septal defect, Umbil... |
OMIM:615297 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap... |
ORPHA:1166 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Hidrotic Ectodermal Dysplasia |
|
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... |
ORPHA:189 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
High anterior hairline, Sparse scalp hair, Adducted thumb, Single transverse palmar crease, Brach... |
OMIM:620062 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Death in infancy, Camptodacty... |
OMIM:608104 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Advanced pneumatization of cranial sinuses, Broad femoral head, Fibular ... |
ORPHA:85188 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Short nose, Everted ... |
OMIM:619736 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... |
OMIM:619658 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition |
ORPHA:2776 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Micrognathia, Short nose, Everted lower lip vermilion,... |
ORPHA:261120 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Abnormality of the... |
ORPHA:1354 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Atkin-Flaitz Syndrome |
|
Genu valgum, Tapered finger, Exaggerated median tongue furrow, Prominent median palatal raphe, Th... |
OMIM:300431 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Anonychia With Flexural Pigmentation |
|
Abnormal skin morphology of the palm, Axillary and groin hyperpigmentation and hypopigmentation, ... |
ORPHA:69125 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Lacunar stroke, Dilatation of the cerebral ... |
OMIM:611773 |
Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... |
OMIM:253300 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... |
ORPHA:1909 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De... |
ORPHA:229 |
Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Cafe-au-lait spot, Spotty hypopigmentation, Achilles te... |
OMIM:619719 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose, Hypoplasia of the maxil... |
ORPHA:1529 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Renal dysplasia, Interrupted aortic arch, Abnorm... |
ORPHA:391641 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Short foot, Small hand, Iris hypopigmentation, Abnormal ulnar metap... |
ORPHA:177910 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasi... |
ORPHA:2326 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypospadias, Micropenis,... |
OMIM:617516 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Micrognathia, Short philtrum, Narrow nasal bridge, Broad nasal tip, Tongue f... |
ORPHA:166108 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide nasal bridge, Wide mouth, Macroglossia, ... |
OMIM:618729 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... |
OMIM:610205 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect, Facial palsy |
OMIM:147770 |
Eem Syndrome |
|
Sparse body hair, Sparse scalp hair, Finger syndactyly, Selective tooth agenesis, Widely spaced t... |
ORPHA:1897 |
Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Palmar hyperhidrosis, Hypodontia, Oral mucosal bliste... |
OMIM:226650 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Malar flattening, ... |
ORPHA:52056 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermilion, Depressed... |
ORPHA:1695 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Abnormal oral cavity morphology, Generalized hyperpigmentation, Short nose, Hypopigmentation of h... |
ORPHA:1355 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... |
OMIM:600987 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Hypoplastic toenails, Delayed eruption of teeth, Hypodontia, Abnormality of dental... |
ORPHA:2228 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia,... |
ORPHA:314588 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short philtrum, Hypoplasia of the maxilla, Premature loss of teeth, Thin verm... |
OMIM:156510 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Cya... |
ORPHA:2299 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney ... |
OMIM:617056 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Dental Ankylosis |
|
Tooth agenesis, Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Macular hyperpigmented dermopathy, Scarring alopecia of scalp, Carious teeth,... |
OMIM:619787 |
You-Hoover-Fong Syndrome |
|
Double aortic arch, Vascular ring, Coarctation of aorta |
OMIM:616954 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... |
OMIM:249700 |
Isolated Polycystic Liver Disease |
|
Vascular dilatation, Multiple renal cysts |
ORPHA:2924 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Truncus arteriosus, Death in infancy, Mitral ... |
ORPHA:2008 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect, Limb hypertonia |
OMIM:616920 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Alopecia, Sparse lateral eyebrow, Yellow nails, Onycholysis, Carious teeth, Co... |
OMIM:614564 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Cardioacrofacial Dysplasia 2 |
|
Left superior vena cava draining to coronary sinus, Atrioventricular canal defect, Common atrium |
OMIM:619143 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... |
ORPHA:99094 |
Igg4-Related Aortitis |
|
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... |
ORPHA:449400 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Delayed eruption of prim... |
OMIM:609029 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... |
OMIM:265380 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Short nose, Broad nasal tip, Malar flattening, Open mouth |
OMIM:613670 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Pyle Disease |
|
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... |
OMIM:265900 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... |
ORPHA:2633 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... |
OMIM:179613 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Marshall Syndrome |
|
Thick upper lip vermilion, Coxa valga, Micrognathia, Irregular distal femoral epiphysis, Bifid uv... |
OMIM:154780 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Cohen Syndrome |
|
Genu valgum, Childhood-onset truncal obesity, Tapered finger, Macrodontia of permanent maxillary ... |
OMIM:216550 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Perlman Syndrome |
|
Retrognathia, Wide nasal bridge, Micrognathia, Broad alveolar ridges, Abnormal upper lip morpholo... |
ORPHA:2849 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Wide mouth, Short philtrum, Short nose, Everted lower lip vermilion, Thin ... |
ORPHA:2429 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Broad nasal tip |
OMIM:259610 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Abnormal metacarpal morphology, Abnorm... |
ORPHA:1307 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... |
ORPHA:3400 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Enamel hypoplasia, Hepatic fibrosis, Hepatic failure, Hypodontia, O... |
OMIM:607626 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Wide anterior fontanel, Wide mouth, Deep philtrum, Short philtrum, H... |
OMIM:606003 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level |
OMIM:613630 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Dental malocclusion, Hypopigmentation of the skin, Mandibular prognathia, Prominent interdigital ... |
OMIM:601957 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Tooth agene... |
OMIM:618363 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... |
OMIM:614613 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, Atrial septal defect, Tetralog... |
ORPHA:3304 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Convex nasal ridge, Wide anterior fontanel, Periportal f... |
OMIM:263210 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... |
OMIM:192430 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:613313 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Cirrhosis |
OMIM:271500 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... |
ORPHA:49042 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... |
ORPHA:730 |
Bardet-Biedl Syndrome 16 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency |
OMIM:615993 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Prominent nose, Mulberry molar, Dia... |
OMIM:302350 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow trac... |
ORPHA:216694 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Cholestasis, Prolonged neo... |
OMIM:231100 |
X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Bulbous nose, Mandibular prognathia, Short philtrum |
ORPHA:93945 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Atrophic scars, Syndactyly, Failure to thrive, Nail dysplasia, Carious teeth, ... |
OMIM:226700 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Macrodontia, Short nose |
OMIM:300577 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Abnormal for... |
ORPHA:93307 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Enamel hypoplasia, Alopecia, Small nail, Sparse scalp hair, Pili torti, Hypoplasti... |
OMIM:613573 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathia, Hand oligodac... |
OMIM:602418 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Short nose |
ORPHA:2598 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodactyly, Atrial septal ... |
ORPHA:363444 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Conical primary incisor, ... |
OMIM:602400 |
Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Wide nasal b... |
OMIM:618067 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Spina bifida occulta, Transposition of the great arteries, Pulmonic stenosis, Perimembranous vent... |
OMIM:617877 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Bul... |
OMIM:618737 |
Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of retinal pigmentation, Abno... |
ORPHA:1264 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Wide nasal bridge, Micrognathia, Taurodontia, ... |
ORPHA:2751 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid'... |
OMIM:618506 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Multiple joint contractu... |
ORPHA:96170 |
Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Small for... |
OMIM:227270 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Cyanosis, Cardiomegaly, Ventricular septal defect, Single ventricle, At... |
ORPHA:95430 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Agenesis of lateral incisor, Hypodontia, Anodon... |
OMIM:313500 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Portal inflammation, Hepatic bridgin... |
OMIM:613759 |
Burn-Mckeown Syndrome |
|
Wide nasal bridge, Short nose, Bilateral choanal atresia, Abnormal palate morphology, Prominent n... |
ORPHA:1200 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A... |
OMIM:618496 |
Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Thin upper lip vermilion, Smooth philtrum, Anteverted nares |
ORPHA:46 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Convex nasal ridge, Short nasal bridge, Delayed eruption of primary tee... |
ORPHA:2409 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
20P12.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Narrow mouth... |
ORPHA:261295 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis |
ORPHA:251076 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Long philtrum, Long eyelashes, Single transverse palmar crease, Narrow mouth... |
OMIM:615502 |
Phenobarbital Embryopathy |
|
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Interrupted aortic arc... |
ORPHA:2255 |
Fetal Valproate Spectrum Disorder |
|
Long philtrum, Depressed nasal ridge, Short nose, Downturned corners of mouth, Narrow mouth, Thin... |
ORPHA:1906 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Frontonasal Dysplasia 1 |
|
Wide nasal bridge, Hypoplastic frontal sinuses, Bifid nose, Median cleft lip, Hypoplasia of the m... |
OMIM:136760 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... |
OMIM:600803 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Woolly Hair Nevus |
|
Widely-spaced incisors, Patchy hypopigmentation of hair, Curly hair, Fine hair, Congenital poster... |
ORPHA:79414 |
Snijders Blok-Campeau Syndrome |
|
Umbilical hernia, Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect |
OMIM:618205 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Polycystic kidney dysplasia, Abnormal cardiac septum morphology |
OMIM:608776 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th finger, Everted ... |
ORPHA:1515 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatosplenomegaly |
OMIM:618955 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis |
OMIM:176090 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... |
OMIM:263200 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Congenital Gerbode Defect |
|
Vascular dilatation, Bacterial endocarditis, Ventricular septal defect, Perimembranous ventricula... |
ORPHA:99095 |
Ellis-Van Creveld Syndrome |
|
Ectodermal dysplasia, Natal tooth, Delayed eruption of teeth, Atrial septal defect, Common atrium |
OMIM:225500 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian art... |
OMIM:212093 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Microdontia, Taurodontia, Fragile nails, Abnormal hair morphology |
OMIM:190320 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge, Short nose |
ORPHA:2835 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Retrognathia, Irregular hyperpig... |
OMIM:194350 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Premature loss of primary teeth, Abnormality of dental morphology, Fine hair, Abnormal ... |
ORPHA:248 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid... |
ORPHA:1461 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Wide nasal bridge, Synophrys, Thick eyebrow, Short toe, Genu valgum, Met... |
OMIM:619636 |
Peho-Like Syndrome |
|
Retrognathia, Open mouth, Short nose |
OMIM:617507 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, Sparse eyebrow, Tiger tail banding, Sparse hair, Brachydactyly, High, narrow... |
OMIM:619692 |
Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening, Aglossia |
OMIM:241310 |
Dpm1-Cdg |
|
Hepatic fibrosis, Micrognathia, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steato... |
ORPHA:79322 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
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 |
Perching Syndrome |
|
Cyanosis, Joint contracture, Camptodactyly |
OMIM:617055 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
Split-Hand/Foot Malformation 3 |
|
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
Moebius Syndrome |
|
Micrognathia, Microdontia, Breast aplasia, Everted lower lip vermilion, Tooth agenesis, Multiple ... |
ORPHA:570 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Ascending... |
OMIM:270100 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Narrow pelvis bone, Limited elbow extension, Pseudoepiphyses of the metacarpals, Hyp... |
OMIM:210720 |
Congenital Myopathy 11 |
|
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect, Weakness of facial musculature |
OMIM:619967 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Short neck, Camptodactyly, Perimembranous ventricular septal ... |
OMIM:618804 |
Trisomy 17P |
|
Patent ductus arteriosus, Polycystic kidney dysplasia, Hypoplasia of penis, Hypoplastic left hear... |
ORPHA:261290 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Flexion contracture, Short middle phalanx of the 5th finger, Cutaneous finger syndactyl... |
OMIM:203550 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Dental crowding, Short nose, Tented upper lip vermilion, Open mouth |
OMIM:300143 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Ring Chromosome 8 Syndrome |
|
Abnormal palate morphology, Anteverted nares, Short nose |
ORPHA:1450 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Toenail dysplasia, Hypoplastic toenails, Small nail, Small hand, Hypodontia, Advan... |
ORPHA:952 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormal palate morphology, Long philtrum, Microretrognathia, Short nose |
ORPHA:1389 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Microdontia, Abnormal oral frenulum morphology, Abnormality of the nai... |
ORPHA:289 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Enamel hypoplasia, Mitten deformity, Dystrophic toenail, Atrophic, patchy alo... |
ORPHA:251393 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... |
OMIM:208540 |
Odontoonychodermal Dysplasia |
|
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Hypodontia, Pa... |
OMIM:257980 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Facial Paresis, Hereditary Congenital, 3 |
|
High palate, Micrognathia, Short philtrum, Short nose, Depressed nasal bridge, Downturned corners... |
OMIM:614744 |
Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Mandibular prognathia, Wide nasal bridge, Cutaneous finger syndactyly, J... |
OMIM:148820 |
Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defec... |
OMIM:300712 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Wide nasal bridge, Glossoptosis, Micrognathia, Dental crowding... |
OMIM:616367 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Long philtrum, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares |
OMIM:616430 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Overhanging nasal tip, Short philtrum, Diastema, Hypoplasia of the maxilla, Access... |
OMIM:619142 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Abnormal cardiac septum morphology, Interrupted ... |
ORPHA:250989 |
Perlman Syndrome |
|
Nephroblastoma, Renal hamartoma, Interrupted aortic arch, Nephrogenic rest, Nephroblastomatosis |
OMIM:267000 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect |
OMIM:615996 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Long philtrum, Deep philtrum, Asymmetric radia... |
ORPHA:2878 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose |
ORPHA:90653 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Portal fibrosis, Congenital hepatic fibrosis |
OMIM:619111 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:618316 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flattening |
OMIM:122880 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Micrognathia, Abnormal palate morphology, Narrow mouth, Short nose |
ORPHA:1495 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... |
ORPHA:17 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Decreased body weight, Long philtrum, Micrognathia, Synophrys, Clinodactyly, Hypoplasia of the ul... |
OMIM:615162 |
W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... |
ORPHA:2804 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Decreased body weight, Long philtrum, Micrognathia, Synophrys, Clinodactyly, Hypoplasia of the ul... |
ORPHA:357175 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... |
OMIM:278000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, High palate |
OMIM:300676 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial... |
DECIPHER:39 |
Ohdo Syndrome |
|
Long philtrum, Wide nasal bridge, Widely spaced teeth, Micrognathia, Short nose, Depressed nasal ... |
OMIM:249620 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of denta... |
ORPHA:1028 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Long philtrum, Micrognathia, Short nose, Thin upper lip vermilion, Broad nasal tip, ... |
OMIM:613544 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Microdontia, Short nose, Delayed eruption of permanent teeth, Narrow mouth, Antever... |
OMIM:619356 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection |
OMIM:617349 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly |
ORPHA:466794 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Narrow nasal bridge, Short nose |
ORPHA:1514 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Synophrys, Everted lower l... |
ORPHA:251014 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Palmoplantar hyperkeratosis, Decreased number of sweat glands, Subungual hyperkeratosis, Generali... |
ORPHA:69087 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Selective tooth agenesis, Microdontia, Metaphyseal striations, Abnorma... |
ORPHA:2909 |
Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Perimembranous ventricular septal defect, At... |
OMIM:158170 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Distal Trisomy 18Q |
|
High palate, Micrognathia, Abnormality of dental morphology, Short nose, Anteverted nares, Cariou... |
ORPHA:1716 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... |
ORPHA:2970 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
ORPHA:2209 |
Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... |
OMIM:252100 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Intracranial hemorr... |
ORPHA:163979 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Sparse lateral eyebrow, Avascular necrosis of the capital femoral epiphy... |
OMIM:190351 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Pierre-Robin sequence, Wide nasal bridge, Micrognathia, Short nose, Thin upper lip v... |
OMIM:613604 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Delayed eruption of teeth, Microdontia, Metaphyseal striations, Alopecia... |
ORPHA:221016 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Smooth philtrum |
ORPHA:438178 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Lujan-Fryns Syndrome |
|
High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Dental crowding, Prominent ... |
ORPHA:776 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Tented upper lip vermilion, Exaggerated cupid'... |
ORPHA:2662 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia |
OMIM:616299 |
Waardenburg Syndrome Type 1 |
|
Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Premature graying of hair, Synophrys, ... |
ORPHA:894 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Tetralogy of Fallot, Hypoplasia of penis |
ORPHA:1381 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Long philtrum, Asymmetric radi... |
OMIM:171480 |
Monosomy 13Q34 |
|
Common atrium, Pulmonic stenosis |
ORPHA:96168 |
Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Foot joint contracture, Sparse eyebrow, Tapered finger, Long philtrum, Macro... |
ORPHA:444072 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Depressed nasal ridge, Wide nasal bridge, Prominence of the premaxilla, Abnormal palate morpholog... |
ORPHA:2412 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Long philtrum, Short nose |
OMIM:125700 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Genu valgum, Sparse eyebrow, Tapered finger, Macrodontia of permanent maxill... |
OMIM:616202 |
Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr... |
OMIM:190350 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Hall-Riggs Syndrome |
|
Thick hair, Wide mouth, Delayed eruption of teeth, Wide nasal bridge, Thick vermilion border, Coa... |
ORPHA:2107 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Micrognathia, Elevated hepatic transaminase, Short nose, Thin upper lip vermilion |
OMIM:615042 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Transaldolase Deficiency |
|
Telangiectasia, Premature skin wrinkling, Atrial septal defect, Coarctation of aorta, Biventricul... |
ORPHA:101028 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Short nose, Depressed nasal b... |
ORPHA:166272 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Death in infancy, Spina bifida, Bicuspid... |
ORPHA:1120 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Pierpont Syndrome |
|
Wide nose, Prominent median palatal raphe, Widely spaced teeth, Short nose, Everted lower lip ver... |
OMIM:602342 |
Clark-Baraitser Syndrome |
|
High palate, Long philtrum, Wide mouth, Short philtrum, Short nose, Thin upper lip vermilion, Dep... |
OMIM:617752 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp... |
OMIM:212780 |
Chung-Jansen Syndrome |
|
High palate, Long philtrum, Micrognathia, Short philtrum, Short nose, Anteverted nares, Thin verm... |
OMIM:617991 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Micrognathia, Short nose, Anteverted nares, Broad philtrum |
OMIM:618577 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Thin upper lip ve... |
ORPHA:438216 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Wide nasal bridge, Toe syndactyly, Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse h... |
ORPHA:3253 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of t... |
ORPHA:1926 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Hirsutism, Smooth philtrum, Conical ... |
OMIM:235510 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Perimembranous ventricular septal defect, Death in infancy, Secundum atrial septal defect, Jaundi... |
OMIM:608779 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Flexion contracture, Acroosteolysis of distal phalanges (feet), Microgna... |
OMIM:608612 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Patent foramen ovale, Unbalanced atriove... |
OMIM:619534 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:608836 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic necrosis, Hepatic fibrosis, Portal vein thrombosis, Hepatomegaly |
ORPHA:33402 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial s... |
ORPHA:261330 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Prominence of the zygomatic bone, Synophrys, Everted lower lip vermilion, Cleft p... |
ORPHA:364577 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Obtuse angle of mandi... |
ORPHA:2741 |
Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal... |
OMIM:614954 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Poliosis, Patchy alopecia, Short ... |
OMIM:141300 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Patent foramen ovale, Cardiomegaly, Pericardial effusion, Hypoxemia, Abnormal tricuspid... |
ORPHA:555874 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Fragile nails, Premature loss of teeth, Reticular hyperpigmentation, Carious teeth, Palmoplantar ... |
OMIM:161000 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, High palate, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract ... |
OMIM:614069 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Hepatomegaly... |
OMIM:607361 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors |
ORPHA:397973 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93950 |
Codas Syndrome |
|
Delayed eruption of teeth, Extrahepatic biliary duct atresia, Abnormality of dental morphology, S... |
ORPHA:1458 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Short nose, Everted lower li... |
ORPHA:884 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Secundum atrial septal defect, Hypoxemia, Dextrocardia, Abnormal pulmonary artery morph... |
ORPHA:2257 |
Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Microdontia, Hypodontia, Hypoplasia of the maxilla, Everted lower lip vermilio... |
ORPHA:782 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Wide nasal ... |
OMIM:617102 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:619189 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Long philtrum, Wide anterior fontanel,... |
OMIM:610199 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Deep philtrum, Thick lower lip vermilion, Short nose, Abnormal palate morphology, Anteverted nare... |
ORPHA:2701 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Short nose, Downturned corners of mouth, Narrow mouth, Anteverted nares, Thin vermi... |
ORPHA:1895 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Wide mouth, Micrognathia, Short nose, Thin upper lip vermilion, Smooth philtrum, Slender nose |
OMIM:615419 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... |
OMIM:602111 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Malar prominence, Hyperplasia of the maxill... |
ORPHA:231226 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Clinodactyly of the 2nd finger, Dental malocclusion, Hypoplastic sweat glands, Long philtrum, Wid... |
ORPHA:73223 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
Autosomal Dominant Omodysplasia |
|
Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Malar flattening |
ORPHA:93328 |
Halperin-Birk Syndrome |
|
Flexion contracture, Perimembranous ventricular septal defect, Semilobar holoprosencephaly, Conge... |
OMIM:618651 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Mandibular prognathia, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Microdontia, Metaphyseal striations, Alopecia... |
ORPHA:221008 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Cholestasis, Hepatomegaly, Splenomegaly, Orofacial cleft |
OMIM:615630 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Small nail, Microdonti... |
OMIM:606895 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia |
OMIM:619699 |
Camurati-Engelmann Disease |
|
Genu valgum, Coxa valga, Slender build, Delayed eruption of teeth, Abnormal subcutaneous fat tiss... |
ORPHA:1328 |
Cardiofaciocutaneous Syndrome |
|
Generalized hyperpigmentation, Multiple cafe-au-lait spots, Abnormal eyelash morphology, Deep pal... |
ORPHA:1340 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Orofaciodigital Syndrome I |
|
Underdeveloped nasal alae, Enamel hypoplasia, Lobulated tongue, Cleft upper lip, Bifid tongue, Hi... |
OMIM:311200 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Flexion contracture, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upp... |
ORPHA:88630 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Renal insufficiency, Cardiomyopathy |
ORPHA:3222 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Microdontia, Bifid uvula, Taurodontia, Supernumerary nipple, Decreased number of s... |
OMIM:129400 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
ORPHA:85279 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Renal tubular dysf... |
OMIM:614886 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps we... |
ORPHA:98913 |
Phaver Syndrome |
|
Camptodactyly of finger, Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypop... |
ORPHA:2876 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Hypoplasia of the maxilla, Abnormal palate morphology, Malar flattening, Choa... |
ORPHA:93262 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... |
ORPHA:2847 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic cysts, Abnormality of the kidney, Polycystic kidney dysplasia, ... |
ORPHA:1505 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology, Mandibular prognathia |
ORPHA:1540 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618330 |
Tooth Agenesis, Selective, 4 |
|
Sparse body hair, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair, Palmoplantar hyperhidros... |
OMIM:150400 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Long philtrum, Wide nasal bridge, Delayed eruption of teeth, Hypoplasia of the m... |
ORPHA:915 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Crossed fused renal ectopia, Ventricular septal def... |
ORPHA:3097 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Crossed fused renal ectopia, Truncus arteriosus, Renal dysplasia, R... |
ORPHA:2538 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Wide mouth, Intrahepatic bile duct dilatation, Elevated hepatic tran... |
OMIM:216360 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Mandibular prognathia, High palate, Abnormality of dental eruption, Short no... |
ORPHA:1327 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Abnormality of the urinary system, Anomalous pulmonary venous return, T... |
ORPHA:2184 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Cholestatic liver disease, Hepatosplenomegaly |
OMIM:619858 |
Achondrogenesis |
|
Micrognathia, Long philtrum, Anteverted nares, Short nose |
ORPHA:932 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Craniolenticulosutural Dysplasia |
|
Wide nose, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Prominent nasal bri... |
ORPHA:50814 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Temporomandibular joint ankylosis, Radial bowing, Ulnar devia... |
OMIM:164900 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Patent foramen ovale, Hypoxemia, Atrial septal defect, Muscular ventricular septal defe... |
ORPHA:439 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, S... |
OMIM:614753 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Abnormality of the ki... |
OMIM:606232 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Micrognathia, Metatarsus adductus, Abnormal ... |
OMIM:212720 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis |
ORPHA:139491 |
Mandibuloacral Dysplasia |
|
Alopecia, Contractures of the large joints, High palate, Acroosteolysis of distal phalanges (feet... |
ORPHA:2457 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Sparse eyebrow, High palate, Avascular necrosis of the capital femoral e... |
ORPHA:77258 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Short philtrum, Short nose, Downturned corners of m... |
OMIM:601224 |
Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... |
OMIM:113650 |
Mungan Syndrome |
|
Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:611376 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Polycystic kidney dysplasia, Lacticaciduria, Glutaric aciduria, Abnormal heart mo... |
ORPHA:26791 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Micrognathia, Short nose, Short columella, Depressed nasal bridge, Thin vermilion ... |
ORPHA:171839 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Polycystic kidney dys... |
ORPHA:84064 |
Non-Distal Trisomy 13Q |
|
High palate, Long philtrum, Micrognathia, Short nose, Everted lower lip vermilion, Thin vermilion... |
ORPHA:1702 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Vesicoureteral reflux, Ventricular septal defect, Pulmonic stenosi... |
OMIM:301056 |
Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis |
ORPHA:2901 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Renal hypoplasia, Pulmo... |
OMIM:612946 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
Marshall Syndrome |
|
Thick upper lip vermilion, High palate, Long philtrum, Hypoplastic frontal sinuses, Wide nasal br... |
ORPHA:560 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Hypospadias, Tetralogy of Fallot |
ORPHA:276422 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Tricuspid stenosis,... |
OMIM:164280 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Dysostosis, Stanescu Type |
|
Convex nasal ridge, Abnormal nasal morphology, Macroglossia, Hypoplasia of the maxilla, Narrow na... |
ORPHA:1798 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Malar prominence, Hyperplasia of the maxill... |
ORPHA:231214 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... |
ORPHA:71526 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... |
OMIM:620067 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Elevated... |
ORPHA:64743 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias |
OMIM:614091 |
Pfeiffer Syndrome |
|
Choanal stenosis, Mandibular prognathia, High palate, Short nose, Hypoplasia of the maxilla, Depr... |
OMIM:101600 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Micrognathia, Short nose, Malar flattening, Cleft palate |
ORPHA:2145 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta, Aortic valve stenosis,... |
ORPHA:2396 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Coarse hair, Clinodactyly of the 5th finger, Microretrognathia, Sh... |
ORPHA:1786 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... |
OMIM:616867 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Wide nasal bridge, Albinism, Synophrys, White eyelashes, White eyebrow... |
OMIM:193510 |
Acromicric Dysplasia |
|
Long philtrum, Thick lower lip vermilion, Short nose, Narrow mouth, Anteverted nares, Bulbous nose |
ORPHA:969 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Long philtrum, Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Thick vermilion bo... |
ORPHA:228396 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Wide anterior fontanel, Long philtrum, Micrognathia, Short nose, Depressed nasal bri... |
ORPHA:163649 |
Eiken Syndrome |
|
Pseudoepiphyses, Decreased body weight, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyse... |
OMIM:600002 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Flexion contracture, Wide nasal bridge, Micrognathia, Flared iliac wing, Broad eyebr... |
OMIM:180849 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect |
OMIM:613355 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... |
ORPHA:244 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti... |
OMIM:614823 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Transposition ... |
ORPHA:1913 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Short philtrum, Hypoplasia of ... |
OMIM:601499 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:214110 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Abnormal aort... |
ORPHA:2306 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Transketolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... |
ORPHA:488618 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Microdontia, Hepatic fibrosis, Oral leukoplakia |
OMIM:224230 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
Rare Circulatory System Disease |
|
Cyanosis, Arterial calcification, Elbow flexion contracture, Abnormal systemic arterial morpholog... |
ORPHA:98028 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Brittle hair, Coarse hair, Joint contracture of the 5th finger, Arachnod... |
ORPHA:1883 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Microgna... |
OMIM:268305 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Narrow mouth, High palate, Short nose |
ORPHA:217385 |
Achondrogenesis Type 1B |
|
Micrognathia, Long philtrum, Anteverted nares, Short nose |
ORPHA:93298 |
Fibrochondrogenesis 2 |
|
Micrognathia, Malar flattening, Anteverted nares, Short nose |
OMIM:614524 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Micrognathia, Thick nasal alae, Short nose |
ORPHA:163961 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Short nose, Hypoplasia of the maxilla, Accessory oral frenulum, Malar flattening, C... |
ORPHA:79113 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Mandibular prognathia, Prominent nasolabial fold, Short nose, Downturned corners of... |
ORPHA:391372 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... |
OMIM:613834 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Thin vermilion border, Narrow mouth, Short nose |
ORPHA:2370 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Acrocephalopolydactyly |
|
Hepatosplenomegaly, Depressed nasal ridge, Short nose |
ORPHA:221054 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Cleft palate, Genu valgum, Flexion contracture of ... |
ORPHA:2712 |
Muenke Syndrome |
|
Carpal synostosis, Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule, S... |
ORPHA:53271 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Long philtrum, Micrognathia, Prominent nasal tip, Short ph... |
ORPHA:439822 |
Cenani-Lenz Syndrome |
|
Absent fingernail, Absent toenail, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplas... |
ORPHA:3258 |
Dysspondyloenchondromatosis |
|
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... |
ORPHA:85198 |
Hemochromatosis Type 2 |
|
Elevated hepatic transaminase, Abnormality of endocrine pancreas physiology, Congenital hepatic f... |
ORPHA:79230 |
Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
Tuberous Sclerosis Complex |
|
Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney disease, Abnormality of the kid... |
ORPHA:805 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration |
OMIM:618892 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Micrognathia, Hip dislocation, Clinoda... |
ORPHA:3320 |
Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Hypoplastic toenails, Abnormal finger morphology, Aplasia of the pectora... |
ORPHA:3138 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Metaphyseal irregularity, Delayed epiphyseal ossification, Bulging epiphyses, ... |
OMIM:277440 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central... |
ORPHA:364028 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Finger syndactyly, Abnormal hair quantity, Carious teeth, Distichiasis, Bilateral ... |
ORPHA:1997 |
Junctional Epidermolysis Bullosa Inversa |
|
Mitten deformity, Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teet... |
ORPHA:79405 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Retrognathia, Sparse eyebrow, Wide nasal bridge, Cutaneous finger syndactyly, Micrognathia, Hypod... |
OMIM:613026 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
OMIM:616652 |
Mpi-Cdg |
|
Decreased liver function, Hepatic fibrosis, Portal hypertension, Hepatomegaly |
ORPHA:79319 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Wide nasal bridge, Micrognathia, Short nose, Narrow mouth, Cleft palate |
OMIM:614078 |
Piebaldism |
|
Long philtrum, Piebaldism, Wide nasal bridge, Synophrys, White eyelashes, White eyebrow, Hypopigm... |
ORPHA:2884 |
Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Disl... |
OMIM:600920 |
Digeorge Syndrome |
|
Patent ductus arteriosus, Renal insufficiency, Truncus arteriosus, Ventricular septal defect, Ren... |
OMIM:188400 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Cleft palate,... |
ORPHA:1452 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... |
OMIM:613870 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
Achondrogenesis Type 1A |
|
Micrognathia, Long philtrum, Anteverted nares, Short nose |
ORPHA:93299 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Short nose |
ORPHA:2547 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Webbed neck, Left v... |
OMIM:615355 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Prominent nasal tip, Smooth philtrum, Short nose |
OMIM:618218 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, A... |
ORPHA:2237 |
22Q11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Meningocele, Truncus arteriosus, Ventricular septal defect, Spina bifid... |
ORPHA:567 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect |
OMIM:613730 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Micrognathia, Macroglossia, Short nose, Depressed nasal bridge, Protruding tongue, Sinusitis, Ant... |
OMIM:242860 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta, Stillbirth |
OMIM:215045 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Deep philtrum, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Thin upper l... |
OMIM:309520 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Hepatic failure, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Squalene Synthase Deficiency |
|
Retrognathia, 2-3 toe syndactyly, Knee flexion contracture, Abnormality of hair pigmentation, Mic... |
OMIM:618156 |
Meckel Syndrome 14 |
|
Retrognathia, Hepatic fibrosis, Micrognathia, Microretrognathia, Anteverted nares |
OMIM:619879 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal nostril morphology, Depressed nasal ridge, Wide nasal bridge, Long philtrum, Submucous c... |
ORPHA:178303 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, High palate, Wide anterior fontanel, Wide nasal bridge, Widel... |
OMIM:266920 |
Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
Prolidase Deficiency |
|
High palate, Micrognathia, Elevated circulating aspartate aminotransferase concentration, Short n... |
OMIM:170100 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Jaundice, Abnormality of the pulmonary arter... |
ORPHA:290 |
Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Hydronephrosis |
OMIM:613390 |
Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Short nose, Anteverted nares, Glossoptosis, Congenital hepatic fibrosis |
ORPHA:2031 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Pallister-Hall-Like Syndrome |
|
Micrognathia, Median cleft lip, Short nose, Depressed nasal bridge, Microglossia, Cleft palate |
OMIM:241800 |
Rubinstein-Taybi Syndrome |
|
High palate, Finger syndactyly, Wide nasal bridge, Keloids, Hip dysplasia, Micrognathia, Clubbing... |
ORPHA:783 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose |
OMIM:618379 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Macroglossia, Short nose, Everted lower lip vermilion, Depressed nasal bri... |
ORPHA:261144 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity |
OMIM:127350 |
Verheij Syndrome |
|
Renal cyst, Renal hypoplasia, Abnormal cardiac septum morphology, Renal agenesis |
OMIM:615583 |
Periventricular Nodular Heterotopia 7 |
|
Pierre-Robin sequence, Micrognathia, Dental crowding, Microretrognathia, Short nose, Narrow mouth... |
OMIM:617201 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Atelosteogenesis, Type Iii |
|
Micrognathia, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flattening, Cleft palate |
OMIM:108721 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Wide anterior fontanel, Short nose, Thin vermilion border, Smooth philtrum, Antevert... |
OMIM:601853 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... |
ORPHA:231160 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Atrial septal defec... |
OMIM:620024 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins, Ventricular septal defect |
OMIM:126320 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... |
OMIM:618164 |
Pycnodysostosis |
|
Enamel hypoplasia, Dental malocclusion, Obtuse angle of mandible, Convex nasal ridge, Delayed eru... |
ORPHA:763 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Ogden Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Minimal subcutaneous f... |
OMIM:300855 |
Nager Syndrome |
|
Non-midline cleft lip, Wide mouth, Abnormal nasal morphology, Micrognathia, Hypoplasia of the max... |
ORPHA:245 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Weight loss, Glossitis, Fine hair, Macroglossia, Hypopigmentation of... |
ORPHA:2221 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Bifid tongue, Abnormal metacarpal morphology, Hand polydactyly,... |
ORPHA:2167 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Wide nose, Short nose |
OMIM:614261 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... |
OMIM:614262 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Cardiomegaly, Ischemic... |
ORPHA:91387 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Wide nasal bridge, Synophrys, White eyela... |
ORPHA:897 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Mandibular prognathia, Wide mouth, Iris hypopigmentation, Hypopigme... |
ORPHA:411515 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Short philtrum, Short nose, Ev... |
OMIM:615866 |
Trisomy 12P |
|
Wide nasal bridge, Micrognathia, Short nose, Everted lower lip vermilion, Downturned corners of m... |
ORPHA:1699 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Broad neck, Ventricular septal defect, Camptodactyly, Atrial septal def... |
OMIM:300963 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, Short philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, D... |
OMIM:613443 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Vascular ring, Recurr... |
ORPHA:353281 |
Harel-Yoon Syndrome |
|
Micrognathia, Mandibular prognathia, Short nose |
OMIM:617183 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Charge Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Aortic arch aneurysm, Abnormal cardiac septum mo... |
ORPHA:138 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... |
OMIM:601005 |
Ctcf-Related Neurodevelopmental Disorder |
|
2-3 toe syndactyly, Microdontia, Synophrys, Cleft palate, Thick eyebrow, Short nose, Narrow mouth... |
ORPHA:363611 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... |
OMIM:618641 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Cleft soft palate, Calvarial osteosclerosis, Long philtrum, Wide mouth, Micr... |
OMIM:616331 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Renal insufficiency, Atrial septal defect, Chronic kidney disease |
ORPHA:1667 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, High palate, Wide nasal bridge, Short nose |
OMIM:218000 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Patent ductus arteriosus, Palmoplantar erythema, Ascending tubular aorta aneurysm, Truncus arteri... |
OMIM:612474 |
Fibrous Dysplasia Of Bone |
|
Abnormal mandible morphology, Coxa vara, Abnormality of the sphenoid sinus, Large cafe-au-lait ma... |
ORPHA:249 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Microdontia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Madelung deformity |
ORPHA:1765 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Wide nasal bridge, Delayed eruption of teeth, Micrognathia,... |
ORPHA:1071 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect |
OMIM:300887 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Micrognathia, Microdontia, Short nose, Thin upper lip vermilion, Anteverte... |
ORPHA:1915 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Dislocated radial head, Short h... |
OMIM:186500 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Aplastic clavicle, Delayed eruption of primary teeth, Delayed ossificati... |
OMIM:620099 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus, Hypodontia, Reduced subcutaneous adipose tissue, Limb joint contract... |
OMIM:612079 |
Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
Fryns Syndrome |
|
Vesicoureteral reflux, Abnormal aortic morphology, Multicystic kidney dysplasia, Abnormal cardiac... |
ORPHA:2059 |
Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic kidney dysplasia,... |
ORPHA:2044 |
Acrofacial Dysostosis, Rodríguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Vascular dilatation, Ventricular septal defect |
OMIM:219730 |
Miller-Dieker Syndrome |
|
Abnormal upper lip morphology, Anteverted nares, Short nose |
ORPHA:531 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Thin upper lip vermilion, Anosmia, Hypoplasia of the zyg... |
ORPHA:1295 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Wide anterior fontanel, Long philtrum, Short nose, Narrow mouth, Anteverted nares, C... |
OMIM:219200 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Convex nasal ridge, Narrow palate, Choanal atresia |
ORPHA:207 |
Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Hematuria, Pericarditis, Aortic dissection, Renal insufficiency, Doubl... |
ORPHA:397 |
Chiari Malformation Type Ii |
|
Cyanosis, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Limb muscle weakness |
OMIM:207950 |
Peho Syndrome |
|
Retrognathia, Tented upper lip vermilion, Open mouth, Short nose |
OMIM:260565 |
Kagami-Ogata Syndrome |
|
Retrognathia, Long philtrum, Micrognathia, Hypoplasia of the maxilla, Depressed nasal bridge, Ant... |
OMIM:608149 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, High palate, Deep philtrum, Micrognathia, Elevated hepatic transaminase, Sho... |
ORPHA:329178 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Cleft upper lip, Wide nasal bridge, Selective tooth agenesis, Widely spaced teeth,... |
OMIM:106260 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thick upper lip vermilion, High palate, Short nose, Thin upper lip vermilion, Anteverted nares, O... |
OMIM:300558 |
16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, Long philtrum, Wide mouth, Short nose, Thin vermilion border, Malar flattening, Bul... |
ORPHA:485405 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia, Elevated circulating creatine kinase concentration |
OMIM:614300 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Depressed nasal ridge, Periportal fibros... |
ORPHA:731 |
Toluene Embryopathy |
|
Micrognathia, Short nose, Smooth philtrum, Hypoplasia of the zygomatic bone, Thin vermilion border |
ORPHA:1920 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatic fibrosis, Convex nasal ridge, Cirrhosis, Wide nasal bridge, Hepatomegaly |
OMIM:601539 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Mckusick-Kaufman Syndrome |
|
Patent ductus arteriosus, Urogenital sinus anomaly, Multicystic kidney dysplasia, Ventricular sep... |
ORPHA:2473 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:370 |
Donohue Syndrome |
|
Hepatic fibrosis, Wide mouth, Thick lower lip vermilion, Cholestasis, Pancreatic islet-cell hyper... |
OMIM:246200 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Polycystic kidney dysplasia, Re... |
OMIM:134780 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis |
OMIM:615328 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Distal Monosomy 15Q |
|
Patent ductus arteriosus, Mitral atresia, Multicystic kidney dysplasia, Double outlet right ventr... |
ORPHA:1596 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Thick vermilion border, Long philtrum, Short nose |
ORPHA:833 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Oligodontia, Short phi... |
OMIM:617061 |
Lelis Syndrome |
|
Mandibular prognathia, Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Hypodontia, ... |
ORPHA:140936 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow... |
OMIM:170390 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Cerebral hemorrhage, Myocardial sarcomeric disarray, Dilated cardiomyopathy, I... |
OMIM:619897 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Open mouth, Macrodontia of permanent maxillary central incisor, Thick vermilion border |
OMIM:620114 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Neonatal death, Misalignment of the pulmonary veins, Death in infancy |
OMIM:265120 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Ventricular septal defect, Umbilical hernia, Perimembranous ventricular septal defect |
OMIM:301040 |
Autosomal Recessive Omodysplasia |
|
Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares |
ORPHA:93329 |
Cranioectodermal Dysplasia 1 |
|
Enamel hypoplasia, Hepatic fibrosis, Hepatic failure, High palate, Wide nasal bridge, Widely spac... |
OMIM:218330 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... |
OMIM:616860 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Long philtrum, Micrognathia, Oligodontia, Short philtrum, Short nose, Thin upper lip v... |
ORPHA:391408 |
Kyphomelic Dysplasia |
|
Cleft upper lip, Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowin... |
OMIM:211350 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2377 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
Leukodystrophy, Hypomyelinating, 10 |
|
Long philtrum, Short nose, Thin vermilion border, Anteverted nares, Smooth philtrum, Malar flatte... |
OMIM:616420 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Iris hypopigmentation, Taurodontia, Short philtrum, Hypopigmented skin... |
ORPHA:3214 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
Coffin-Lowry Syndrome |
|
Wide nose, Narrow palate, High palate, Wide mouth, Delayed eruption of teeth, Widely spaced teeth... |
ORPHA:192 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, Coxa valga, High palate, Natal tooth, Absent para... |
OMIM:269300 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hepatic fibrosis, Hepatomegaly, Cirrhosis |
OMIM:602579 |
Orofacial Cleft 15 |
|
High anterior hairline, Sparse eyebrow, Agenesis of lateral incisor, Bilateral cleft lip, Single ... |
OMIM:616788 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, High palate, Wide nasal bridge, Widely spaced teeth, Wide mouth, Macroglos... |
ORPHA:369891 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:79303 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... |
OMIM:267010 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Alg3-Cdg |
|
Neural tube defect, Macroglossia, Coarctation of the descending aortic arch, Arthrogryposis multi... |
ORPHA:79321 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Wide nasal bridge, Long philtrum, Micrognathia, Short nose, Broad nasal tip, A... |
OMIM:618529 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron |
ORPHA:98870 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic fibrosis, Cleft upper lip, Bile duct proliferation, Hepatic cysts, Cl... |
OMIM:612284 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, Mitral atresia, Cardiac total ... |
ORPHA:99125 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Failure to thrive, Oral leukoplakia, Premature loss o... |
OMIM:616353 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Short lingual frenulum, Thick lower lip vermilion, Hypoplasia of the maxilla, Epista... |
ORPHA:293939 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hepatic fibrosis, Micrognathia, Microdontia, Elevated hepatic transaminase, Depressed nasal bridg... |
OMIM:620005 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Cleft upper lip, Long philtrum, Wide nasal bridge, Wide mouth, Short nose, Thin upp... |
OMIM:243310 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta |
ORPHA:1923 |
Pycnodysostosis |
|
Aplastic clavicle, Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Ab... |
OMIM:265800 |
Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
Orofaciodigital Syndrome Xix |
|
Retrognathia, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, To... |
OMIM:620107 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Widely spaced teeth, Advanced eruption of teeth, Short nose, Broad columella, Everted lower lip v... |
OMIM:617865 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney, Ventricular septal defect |
OMIM:614815 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Micrognathia, Short nose |
ORPHA:1129 |
Teebi Hypertelorism Syndrome 1 |
|
Long philtrum, Wide nasal bridge, Natal tooth, Micrognathia, Short nose, Thin upper lip vermilion... |
OMIM:145420 |
Trichohepatoenteric Syndrome 1 |
|
Wide nose, Hepatic fibrosis, Cirrhosis, Hepatic failure, Depressed nasal ridge, Long philtrum, Wi... |
OMIM:222470 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Dextrocardia, Persistent left s... |
OMIM:314390 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Monosomy 18Q |
|
Patent ductus arteriosus, Absence of the pulmonary valve, Secundum atrial septal defect, Aortic a... |
ORPHA:1600 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Developmental And Epileptic Encephalopathy 75 |
|
Prolonged neonatal jaundice, Wide nasal bridge, Short philtrum, Short nose, Anteverted nares, Dec... |
OMIM:618437 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Wide nose, Mandibular prognathia, Cleft ala nasi, Narrow nasal base, Hypoplasia of the maxilla |
ORPHA:3044 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Wide nasal bridge, Synophrys, Smooth philtrum, Cleft palate, Thick eyebrow, S... |
OMIM:614701 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Jaundice, Macroglossia, Short nose, Depressed nasal bridge, Concave nasal ridge, Anteverted nares... |
OMIM:613038 |
Marshall-Smith Syndrome |
|
Retrognathia, Short nose, Protruding tongue, Anteverted nares, Open mouth, Gingival overgrowth, C... |
ORPHA:561 |
Distal Trisomy 5Q |
|
Long philtrum, Aplasia/Hypoplasia of the gallbladder, Micrognathia, Short nose, Narrow mouth, Car... |
ORPHA:96097 |
Coronary Arterial Fistula |
|
Patent ductus arteriosus, Patent foramen ovale, Vascular dilatation, Bacterial endocarditis, Coro... |
ORPHA:2041 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Polycystic kidney dysplasia, Atrial septal defect, Renal cyst, Hypospa... |
OMIM:614866 |
Johanson-Blizzard Syndrome |
|
Underdeveloped nasal alae, Abnormal nostril morphology, Abnormality of the pancreas, Delayed erup... |
ORPHA:2315 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Coxa valga, Acroosteolysis of distal phalanges (feet), Micrognathia, Elbow f... |
OMIM:248370 |
Alg9-Cdg |
|
Underdeveloped nasal alae, Convex nasal ridge, Wide anterior fontanel, Long philtrum, Wide mouth,... |
ORPHA:79328 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Convex nasal ridge, Short nose |
OMIM:200130 |
Joubert Syndrome With Hepatic Defect |
|
Congenital hepatic fibrosis, Intrahepatic biliary atresia, Cirrhosis, Neoplasm of the liver, Elev... |
ORPHA:1454 |
Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Patent ductus arteriosus, Wrist flexion contracture, Knee flexion contractu... |
OMIM:121050 |
Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Tetralogy of Fallot, Micropenis |
OMIM:617926 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Wide mouth, Micrognathia, Short philtrum, Short nose |
ORPHA:163966 |
Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter... |
ORPHA:3092 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Toe syndactyly, Micrognathia, Taurodontia, Abnorm... |
ORPHA:2710 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Immunodeficiency 47 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Elevate... |
OMIM:300972 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Polycystic kidney dysplasia, Renal cyst, Hyp... |
OMIM:102500 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Preaxial hand polydactyly, Absent eyelashes, Hand polydactyly, Everted lower lip vermil... |
ORPHA:2316 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Micrognathia, Depressed nasal bridge, Natal tooth, Short nose |
OMIM:617802 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Short nose, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal ... |
OMIM:615716 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Smith-Kingsmore Syndrome |
|
Wide anterior fontanel, Wide mouth, Long philtrum, Short nose, Thin upper lip vermilion, Depresse... |
OMIM:616638 |
Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Median cleft lip, Short nose, Narrow mouth, Cleft palate |
ORPHA:1234 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Enamel hypoplasia, Alopecia, Sparse eyebrow, Scarring alopecia of scalp, Nail dysplasia, Carious ... |
OMIM:612843 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Cyanosi... |
ORPHA:141127 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, High palate, Micrognathia, Diastema, Hypoplasia of the maxilla, Thin upper... |
OMIM:300534 |
Distal Monosomy 12Q |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Congenital hypertrophy of ... |
ORPHA:96149 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Double outlet right ventricle, Vesicoureteral reflux, Patent foramen ov... |
ORPHA:163956 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Wide nasal bridge, Mic... |
ORPHA:819 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect,... |
ORPHA:353277 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Toe syndactyly, Micrognathia, Synophrys, Hip dislocation, Elbow disloc... |
ORPHA:199 |
8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Atrioventricular canal defect, Truncus arteriosu... |
ORPHA:508488 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Dental malocclusion, High palate, Wide anterior fontanel, Wide nasal bridge,... |
OMIM:601390 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Vascular dilatation, Hypoplasia of the bladder, Abnormal cardiac septum... |
OMIM:249000 |
Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity |
OMIM:613280 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide nasal bridge, Short nose, Broad nasal tip, Tented upper lip vermilion, Cleft palate |
OMIM:614207 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating alanine aminotransferase concentration, Prolonged neonatal jaundice, Peripor... |
OMIM:619481 |
Atrioventricular septal defect 3 |
|
Cyanosis, Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal de... |
OMIM:600309 |
Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Pulm... |
OMIM:619149 |
Elsahy-Waters Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Agenesis of incisor, Supernumerary too... |
OMIM:211380 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:444013 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ascending aortic d... |
OMIM:619825 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Subcutaneous hemorrhage, Left ventricular hypertrophy, Bruising susceptibility, Right v... |
ORPHA:335 |
Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... |
OMIM:602875 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Small nail, Trichorrhexis nodosa, Brittle hair, Short nose, Woolly hair, Nail dyspl... |
OMIM:234050 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis, Hepatic steatosis, C... |
ORPHA:264580 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Delayed eruption of teeth, Micrognathia, Microdontia, Sparse eyelashes... |
OMIM:268400 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Unroofed coronary sinus, Transient ischemic attack, Anomalous origin of the left common... |
ORPHA:99104 |
Poikiloderma With Neutropenia |
|
Retrognathia, Underdeveloped nasal alae, Long philtrum, Micrognathia, Recurrent sinusitis, Short ... |
OMIM:604173 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, High palate, Finger syndactyly, Long philtrum, Wide mouth, Deep philtrum, Micrognathia,... |
ORPHA:1974 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
Diamond-Blackfan Anemia 8 |
|
Thick upper lip vermilion, Wide nasal bridge, Short nose |
OMIM:612563 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Prominent nasal bridge, Short nose |
ORPHA:2083 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thick lower lip vermilion, Short nose, Thin upper lip vermilion, Anteverted nares, Tented upper l... |
OMIM:619854 |
Cap Myopathy |
|
Aortic root aneurysm, Increased variability in muscle fiber diameter, Generalized amyotrophy, Low... |
ORPHA:171881 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Chromosome 15Q25 Deletion Syndrome |
|
Webbed neck, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistu... |
OMIM:614294 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
9q subtelomeric deletion syndrome |
|
Protruding tongue, Anteverted nares, Short nose |
DECIPHER:52 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
Trigonocephaly 1 |
|
High, narrow palate, Long philtrum, Wide nasal bridge, Short nose |
OMIM:190440 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Knee flexion contracture, Cyanotic episode, Short neck, Limb joint contracture, Ankle flexion con... |
ORPHA:284417 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Palmoplantar cutis laxa,... |
ORPHA:363705 |
Alport Syndrome |
|
Renal tubular atrophy, Abnormal aortic morphology, IgA deposition in the glomerulus, Glomerular b... |
ORPHA:63 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Wide nasal bridge, Hypodontia, Short nose, Hypoplasia of the maxilla, Anteverted... |
OMIM:305400 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Acrocyanosis, Atrial septal defect |
ORPHA:896 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
Andersen-Tawil Syndrome |
|
High palate, Wide nasal bridge, Micrognathia, Oligodontia, Hypoplasia of the maxilla, Thin upper ... |
ORPHA:37553 |
Momo Syndrome |
|
Short sternum, Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed erupti... |
OMIM:157980 |
Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger |
ORPHA:2760 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Multiple Osteochondromas |
|
Deformed radius, Genu valgum, Coxa valga, Abnormal carpal morphology, Femoroacetabular impingemen... |
ORPHA:321 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Short nose |
OMIM:266810 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... |
OMIM:142900 |
Atelosteogenesis, Type I |
|
Short metacarpal, Multinucleated giant chondrocytes in epiphyseal cartilage, Radial bowing, Tibia... |
OMIM:108720 |
Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Wide nasal bridge, Toe syndactyly, Bifid uvula, Abno... |
OMIM:200990 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect |
ORPHA:49827 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu varum, Genu valgum, Coxa valga, Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Cardi... |
OMIM:614922 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, High anterior hairline, Abnormal eyebrow morphology, Pili torti, Thin ey... |
ORPHA:3220 |
Alopecia Antibody Deficiency |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Abnormality of ... |
ORPHA:1006 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial septal defect, Venous insuf... |
ORPHA:90308 |
Caroli Syndrome |
|
Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangi... |
ORPHA:480520 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Atrial septal defect, Facial hypotonia, Hypoplastic aortic arch... |
ORPHA:261311 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic right heart |
OMIM:618142 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Prominent nasal bridge |
ORPHA:110 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Short hallux, Split foot, Split... |
OMIM:119100 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Cyanosis, ... |
OMIM:610655 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
High palate, Long philtrum, Wide nasal bridge, Short nose, Broad columella, Narrow nasal bridge, ... |
OMIM:619383 |
Adult Syndrome |
|
Sparse scalp hair, Toe syndactyly, Microdontia, Hypodontia, Oligodontia, Fair hair, Sparse axilla... |
OMIM:103285 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Camptodactyly, Ventricular septal defect, Atrial septal defect |
OMIM:301039 |
Birt-Hogg-Dube Syndrome |
|
Renal cyst, Renal neoplasm, Renal cell carcinoma |
OMIM:135150 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Deep philtrum, Microretrognathia, Short nose, Downturned corner... |
OMIM:618571 |
Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... |
OMIM:616866 |
Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Aplasia/Hypoplasia of the tongue, Bifid uvula, Short nose, Maxillozygomatic hyp... |
ORPHA:1790 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... |
OMIM:149730 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Small for gestationa... |
ORPHA:199302 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Palmopl... |
OMIM:605275 |
Cardiomyopathy, Dilated, 2D |
|
Patent foramen ovale, Interstitial cardiac fibrosis, Death in infancy, Dilated cardiomyopathy, Mu... |
OMIM:619371 |
Asbestos Intoxication |
|
Cyanosis, Hypoxemia, Myocardial fibrosis, Oxygen desaturation on exertion, Cor pulmonale |
ORPHA:2302 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Atrial septal defect, Abnormal heart morphology, Joint contracture... |
ORPHA:352490 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... |
ORPHA:30391 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... |
ORPHA:255249 |
Tetrasomy 5P |
|
High palate, Wide anterior fontanel, Wide nasal bridge, Long philtrum, Micrognathia, Short nose, ... |
ORPHA:3309 |
Nablus Mask-Like Facial Syndrome |
|
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Short nose, Hypoplasia of the maxill... |
OMIM:608156 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Sparse hair, S... |
OMIM:164200 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Dental malocclusion, High palate, Wide anterior fontanel, Wide nasal bridge,... |
OMIM:615546 |
Cardiofaciocutaneous Syndrome 3 |
|
Webbed neck, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Short ... |
OMIM:615279 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Prolonged neonatal jaundice, Short nose, Depressed nasal bridge, Smooth philtrum, Bulbous nose, P... |
OMIM:618828 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Hepatitis, Jaundice, Hepatocellu... |
ORPHA:186 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Webbed neck, Mitral... |
OMIM:616564 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Kleefstra Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Bicuspid aortic valve, Hypoplasia of penis, Coa... |
ORPHA:261494 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Aplastic zygomatic arch, Cleft palate, Cho... |
OMIM:616462 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, Cardiomyopathy |
OMIM:249270 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Barber-Say Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Wide nose, Mandibular prognathia, High palate, Wi... |
OMIM:209885 |
Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Palmoplantar cutis laxa, Congenital hip dislocation, Red hair, Atypica... |
OMIM:229200 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly, ... |
ORPHA:93274 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Persistence of primary... |
OMIM:619769 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Retrognathia, Mandibular prognathia, Prominent nose, Depressed nasal ridge, Wide mouth, Widely sp... |
OMIM:156200 |
Interstitial Lung And Liver Disease |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic... |
OMIM:615486 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Sparse lateral eyebrow, Aplasia/Hypoplasia of the eyebrow, Delayed eruption of... |
ORPHA:3353 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Limited elbow exten... |
OMIM:604922 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Short nose, Pancreatic fibrosis, Hepatomegaly |
OMIM:200995 |
Senior-Boichis Syndrome |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Malformation of the hepatic ductal pl... |
ORPHA:84081 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegal... |
ORPHA:79240 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormality of retinal pigmentation, Abnorm... |
ORPHA:1873 |
Doors Syndrome |
|
Short 5th finger, Wide nasal bridge, Short lingual frenulum, Abnormal toenail morphology, Cleft p... |
ORPHA:79500 |
Corneodermatoosseous Syndrome |
|
Gingivitis, Abnormal finger morphology, Absent fingernail, Abnormal metacarpal morphology, Abnorm... |
ORPHA:3194 |
Antley-Bixler Syndrome |
|
Long philtrum, Short nose, Narrow mouth, Anteverted nares, Hypoplasia of the zygomatic bone, Clef... |
ORPHA:83 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Micrognathia, Mandibular prognathia, Short nose |
ORPHA:496790 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Narrow maxilla, High palate, Short nose, Downturned corners of mouth, Narrow nose, Thin vermilion... |
OMIM:617602 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Short nose, Depressed nasal bridge, Anteverted nares, Choanal atresia |
ORPHA:1914 |
Tetrasomy 18P |
|
Thin vermilion border, Narrow mouth, Long philtrum, Short nose |
ORPHA:3307 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Wide nasal bridge, Micrognathia, Dislocated radial head, Nail dysplasia, Radial dev... |
OMIM:268310 |
5Q14.3 Microdeletion Syndrome |
|
Open mouth, Short philtrum, Anteverted nares, Short nose |
ORPHA:228384 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Pierre-Robin sequence, Wide anterior fontanel, Micrognathia, Short nose, Depressed nasal bridge, ... |
OMIM:217980 |
Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Dela... |
OMIM:143095 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Long philtrum, Short philtrum, Short nose, Depressed nasal bridge, Anteverted nares,... |
OMIM:614105 |
Even-Plus Syndrome |
|
High palate, Depressed nasal ridge, Hypodontia, Short nose, Bifid nasal tip |
OMIM:616854 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tented upper lip vermilion, Short philtrum, Short nose |
ORPHA:85277 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Limb hypertonia, Death in infancy, Pericardial effusion, Aortic aneurysm, Atrial septal defect, M... |
OMIM:620070 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Hip dysplasia, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nasal septum, Anosmia, Short nose |
OMIM:302950 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin sequence, Long philtrum, Micrognathia... |
ORPHA:1358 |
Crouzon Syndrome |
|
Mandibular prognathia, High palate, Hypoplasia of the maxilla, Dental crowding, Deviated nasal se... |
OMIM:123500 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding |
OMIM:614072 |
Cebalid Syndrome |
|
High palate, Depressed nasal ridge, Short nose, Depressed nasal bridge, Anteverted nares |
OMIM:618774 |
Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Hepatic failure, Everted upper lip vermilion, Micrognathia, Short nose, Everted low... |
OMIM:608013 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Long philtrum, Hypoplasia of the maxilla, Smooth philtrum, Anteverted nares, Thin ve... |
ORPHA:481152 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Short philtrum, Short nose, Thin upper... |
OMIM:239300 |
Bainbridge-Ropers Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Choanal stenosis, High palate, Wide nasal bridge, Wide m... |
OMIM:615485 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Abnormal vena cava morphology, Horseshoe kidney, Ventricular septal defect |
ORPHA:166035 |
Charge Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... |
OMIM:214800 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic steatosis, Hep... |
ORPHA:247585 |
Achondroplasia |
|
Genu varum, Short femoral neck, Radial bowing, Ulnar bowing, Short femur, Bowing of the legs, Fem... |
OMIM:100800 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Patent ductus arteriosus, Restrictive cardiomyopathy, Hydroureter, Renal cyst, Ureteral stenosis,... |
OMIM:615398 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis |
ORPHA:2400 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Cholangiocarcinoma, Elevated hepa... |
ORPHA:171 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... |
ORPHA:251071 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis, Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Acute pan... |
OMIM:619487 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Dental malocclusion, Convex nasal ridge, Abnormality of upper lip vermillion, Pierre-R... |
ORPHA:251028 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal dysplasia, Mitral stenosis, Coarctation of aorta, Renal cyst |
OMIM:617260 |
16P11.2P12.2 Microdeletion Syndrome |
|
Absent nasal bridge, Microretrognathia, Short nose, Anteverted nares, Long nose, Open mouth, Bulb... |
ORPHA:261211 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Thin upper lip vermilion, Dep... |
OMIM:212065 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia |
OMIM:236500 |
Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Renal cyst, Polyuria, Dextrocardia, Situs inversus totalis, Micro... |
OMIM:615994 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Skeletal myopathy, Increased muscle lipid content, Abnormality of the c... |
ORPHA:565612 |
Hardikar Syndrome |
|
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepato... |
OMIM:301068 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Short nose |
OMIM:618087 |
Viss Syndrome |
|
Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Contracture of th... |
OMIM:619472 |
20Q11.2 Microduplication Syndrome |
|
Retrognathia, Wide nasal bridge, Abnormal nasal bridge morphology, Tented philtrum, Abnormal oral... |
ORPHA:363659 |
C Syndrome |
|
High palate, Wide nasal bridge, Wide mouth, Micrognathia, Short nose, Thick anterior alveolar rid... |
OMIM:211750 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Oligodontia, Aplasia/Hypoplasia of the nasal bone, Abnormality of the ... |
ORPHA:2095 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Retrognathia, Microdontia, Short nose, Depressed nasal bridge, Hypoplasia of the zygomatic bone, ... |
ORPHA:1812 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Underdeveloped nasal alae, Conical tooth, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp... |
OMIM:305100 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Wide anterior fontanel, Short nose |
ORPHA:2143 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Patent foramen ovale, Ventricular septal defect, Polycystic kidney dysplasia, Atrial septal defec... |
OMIM:210710 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Alopecia totalis, Cleft... |
OMIM:263650 |
Raine Syndrome |
|
Enamel hypoplasia, Choanal stenosis, Mandibular prognathia, High palate, Natal tooth, Wide mouth,... |
OMIM:259775 |
Koolen-De Vries Syndrome |
|
Narrow palate, Wide nasal bridge, Microdontia, Hypodontia, Hip dislocation, Everted lower lip ver... |
ORPHA:96169 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Micrognathia, Hip dislocation, Phocomelia, Cle... |
OMIM:274000 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Grange Syndrome |
|
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis |
OMIM:602531 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Pers... |
OMIM:618494 |
Ebstein Malformation Of The Tricuspid Valve |
|
Patent ductus arteriosus, Imperforate tricuspid valve, Abnormal cardiac septum morphology, Ebstei... |
ORPHA:1880 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Telangiectasia, Bacterial endocarditis, Ischemic stroke, Transient ischemic attack, Hyp... |
ORPHA:2038 |
Microphthalmia With Limb Anomalies |
|
Retrognathia, Cleft upper lip, High palate, Deep philtrum, Short nose, Depressed nasal bridge, Cl... |
OMIM:206920 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Foam cells, Hypoxemia |
ORPHA:747 |
15q26 overgrowth syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Renal agenesis, Du... |
DECIPHER:81 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatic steatosis, Hepatocellular necrosis, Periportal fibrosis, Hepatomegaly |
OMIM:201475 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Bifid no... |
OMIM:229400 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Deep philtrum, Micrognathia, Short nose, Anteverted nares, Malar flattening, Cleft palate, Choana... |
OMIM:610536 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Redundant neck skin, Atrial septal defect, Hypertrophic cardiomyopathy,... |
ORPHA:1842 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mitral valve prolapse, Situs inversus totalis, Persistent left superior ven... |
OMIM:609008 |
Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, High, narrow palate, Hypoplasia of the radius, Radial... |
ORPHA:2879 |
Treacher-Collins Syndrome |
|
Retrognathia, Cleft upper lip, High palate, Wide nasal bridge, Wide mouth, Micrognathia, Abnormal... |
ORPHA:861 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Hepatic lobular inflammation, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:101330 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Deep philtrum, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares, T... |
ORPHA:314655 |
Trisomy 13 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormality of the ure... |
ORPHA:3378 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Hypospadias, Absent pu... |
OMIM:600460 |
Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Depressed nasal ridge, Short nose, Dimple on nasal tip, Depressed nasal br... |
ORPHA:1791 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Renal agenesis, Ectopia cordis, Hypospadias, Transposition of the great... |
OMIM:313850 |
Down Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Patent fo... |
OMIM:190685 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta |
OMIM:614857 |
Gapo Syndrome |
|
Eruption failure, Wide anterior fontanel, Long philtrum, Thick lower lip vermilion, Micrognathia,... |
OMIM:230740 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Iris hypopigmentation, Bifid uvula, Overlapping toe, Everted lower lip vermilion, A... |
ORPHA:177907 |
De Barsy Syndrome |
|
Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect, Delayed eruption of t... |
ORPHA:2962 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Increased urine alpha-ketoglutarate concentr... |
OMIM:220500 |
Glutamine Deficiency, Congenital |
|
Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Thin vermilion border |
OMIM:610015 |
Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption of teeth, Micrognat... |
OMIM:601812 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Wide na... |
ORPHA:3440 |
Arthrogryposis, Distal, Type 2A |
|
Underdeveloped nasal alae, Mandibular prognathia, High palate, Long philtrum, Wide nasal bridge, ... |
OMIM:193700 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Cohen Syndrome |
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Aplasia/Hypoplasia of the tongue, High, narrow palate, Micrognathia, Gingival overgrowth, Short p... |
ORPHA:193 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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High palate, Deep philtrum, Micrognathia, Short nose, Depressed nasal bridge, Tented upper lip ve... |
OMIM:619833 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Depressed nasal bridge, Short nose |
OMIM:616910 |
Peters-Plus Syndrome |
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Decreased body weight, Short lingual frenulum, Micrognathia, Conical incisor, Square pelvis bone,... |
OMIM:261540 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Conical incisor, Aplasia of the eccrine sweat glands, Sparse hair |
OMIM:300291 |
Joubert Syndrome 35 |
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Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Small hand, Finger symphalangism, Abnormality... |
ORPHA:2911 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Flexion contracture, Long philtrum, Humeroradial synostosis, Narrow pelvis bone, Ulnar bowing, Ca... |
OMIM:207410 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Radial bowing, Micrognathia, Lower limb undergrowth, Omphalocele, Abnormality of fibula morpholog... |
ORPHA:3035 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Fanconi Anemia |
|
Toe syndactyly, Micrognathia, Hip dislocation, Multiple cafe-au-lait spots, Cleft palate, Aplasia... |
ORPHA:84 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Displacement of the papillary muscles, Complete atrioventricular canal defect, Primum a... |
ORPHA:1329 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... |
ORPHA:210122 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Portal fibrosis, Cholestasis, Prolonged neona... |
OMIM:619377 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ... |
ORPHA:402075 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Webbed neck, Ventricular se... |
OMIM:617506 |
Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Recurrent u... |
ORPHA:333 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
Apert Syndrome |
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Convex nasal ridge, Mandibular prognathia, Narrow palate, Delayed eruption of teeth, Bifid uvula,... |
ORPHA:87 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Single naris, Cleft upper lip, Hypoplasia of the premax... |
OMIM:610829 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Lathosterolosis |
|
Hepatic failure, High palate, Long philtrum, Micrognathia, Short nose, Intrahepatic cholestasis, ... |
ORPHA:46059 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
Desbuquois Dysplasia 1 |
|
Long philtrum, Microretrognathia, Short nose, Depressed nasal bridge, Concave nasal ridge, Narrow... |
OMIM:251450 |
Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Anencephaly, Hydroceph... |
ORPHA:1335 |
Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:288 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Right aortic arch, Ventricular septal defect, Lower-limb joint contracture |
ORPHA:513456 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short nose, Depressed nasal bridge, Broad nasal tip, Malar flattening |
OMIM:222448 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Mitral valve prolapse, Bruising susce... |
OMIM:618000 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Increased nuchal translucency, Hydrocephalus, Atrial septal defect |
ORPHA:2655 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wide nasal bridge, Micrognathia, Short nose, Anteverted nares, Cleft palate, Unilateral cleft lip |
OMIM:616897 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Mandibular prognathia, Wide mouth, Widely spaced teeth, Iris hypopi... |
ORPHA:411511 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Vesicoureteral reflux, Multicystic kidney dysplasia, Ventricular septal... |
OMIM:164210 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618870 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Arboleda-Tham Syndrome |
|
Short hallux, Freckling, Cleft palate, Genu valgum, Narrow mouth, Highly arched eyebrow, Genu var... |
OMIM:616268 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
Intellectual Disability-Strabismus Syndrome |
|
Prominent nose, Narrow nasal ridge, High palate, Wide mouth, Micrognathia, Short nose, Depressed ... |
ORPHA:363528 |
3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death... |
ORPHA:7 |
Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Short 4th toe, Sparse ax... |
OMIM:181450 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:329224 |
Angelman Syndrome |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia of the maxilla, ... |
OMIM:105830 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Micrognathia, Recurrent upper respiratory tract infections, Short nose |
ORPHA:3078 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Aortic root aneurysm, Ventricular hypertrophy, Flexion contracture, Ischemic s... |
OMIM:208050 |
Brittle Cornea Syndrome |
|
Hernia, Hallux valgus, Abnormality of hair pigmentation, Hip dysplasia, Corneal scarring, Camptod... |
ORPHA:90354 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Underdeveloped nasal alae, High palate, Micrognathia, Short nose, Low insertion of columella, Dep... |
OMIM:619005 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Underdeveloped nasal alae, Hypoplasia of the frontal bone, Wide nasal bridge, Bifid nose, Hypopla... |
ORPHA:306542 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
High palate, Wide mouth, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Downturned... |
OMIM:618590 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Flexion contracture, Coxa valga, Wide nasal bridge, Micrognathia, Bifid uvula, Dislocated radial ... |
OMIM:130070 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Vasculitis, Acrocyanosi... |
ORPHA:183 |
Joubert Syndrome 1 |
|
Hepatic fibrosis, Macroglossia, Protruding tongue, Triangular-shaped open mouth, Anteverted nares |
OMIM:213300 |
Carpenter Syndrome 1 |
|
High palate, Micrognathia, Polysplenia, Agenesis of permanent teeth, Hypoplasia of the maxilla, D... |
OMIM:201000 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Wide nose, Depressed nas... |
ORPHA:2399 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Underdeveloped nasal alae, Mandibular prognathia, Short philtrum, Short nose, Depressed nasal bri... |
OMIM:300912 |
Otopalatodigital Syndrome, Type I |
|
Wide nasal bridge, Selective tooth agenesis, Short nose, Absent frontal sinuses, Narrow mouth, Mu... |
OMIM:311300 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Depressed nasal ridge, Micrognathia, Short nose, Depressed nasal bridg... |
OMIM:608022 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:613989 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Long philtrum, Short nose, Narrow mouth, Dental crowding |
OMIM:615539 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... |
ORPHA:97362 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Short nose, Hypoplasia of the maxilla, Short columella, Broad nasal tip, N... |
ORPHA:79345 |
Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect,... |
OMIM:617159 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Wide nasal bridge, Brittle hai... |
OMIM:607812 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Thick lower lip vermilion |
OMIM:613804 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... |
ORPHA:3008 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares, Malar flattening |
OMIM:602613 |
Megalencephaly |
|
Short neck, Atrial septal defect |
ORPHA:2477 |
Chand Syndrome |
|
Curly hair, Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of per... |
ORPHA:1401 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Hydroc... |
OMIM:612582 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Micrognathia, Short nose |
OMIM:256600 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased circulating ferritin concentration, Neonatal hyperbilirubine... |
ORPHA:3202 |
Mosaic Trisomy 1 |
|
Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Coarctation of aorta, Renal ... |
ORPHA:1692 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Mandibular prognathia, Delayed eruption of teeth, Hypodontia, Hypoplasia of ... |
OMIM:101800 |
Kawasaki Disease |
|
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Sterile pyuria, ... |
ORPHA:2331 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Toe syndactyly, Iris hypopigmentation, Clinodactyly... |
ORPHA:999 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Mandibular prognathia, Wide mouth, Widely spaced teeth, Iris hypopi... |
ORPHA:98795 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Short nose, Thin upper lip vermilion, Downturned corners of mouth, Depressed nasal bridge, Tented... |
OMIM:618430 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Acrocyanosis, Purpura, Erythema, Urticaria |
ORPHA:343 |
Fibrochondrogenesis 1 |
|
Wide anterior fontanel, Long philtrum, Short nose, Depressed nasal bridge, Narrow mouth, Antevert... |
OMIM:228520 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:615895 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Right ventricular dilatation, Left ventricular hypertrophy, Pulmonary artery dilatation... |
ORPHA:99106 |
Goldberg-Shprintzen Syndrome |
|
Wide nasal bridge, Oligodontia, Short philtrum, Hypoplasia of the maxilla, Everted lower lip verm... |
OMIM:609460 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Short nose |
OMIM:615851 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Loeys-Dietz Syndrome 4 |
|
Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve,... |
OMIM:614816 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Aceruloplasminemia |
|
Cirrhosis, Hepatic fibrosis, Abnormal pancreas morphology, Elevated hepatic iron concentration |
ORPHA:48818 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,... |
OMIM:180700 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Cor... |
OMIM:617168 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Narrow mouth, Short nose |
OMIM:616459 |
Meckel Syndrome, Type 10 |
|
Renal cyst, Hypospadias, Micropenis |
OMIM:614175 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
Frontorhiny |
|
Bifid tongue, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Cleft... |
ORPHA:391474 |
Aicardi-Goutieres Syndrome 1 |
|
Cardiomyopathy, Petechiae, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice, Vasculitis |
OMIM:225750 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Dental malocclusion, Bifid tongue, Long philtrum, Wide nasal bridge, Micrognathia, Agenesis of pe... |
OMIM:616894 |
Trisomy 1Q |
|
Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megaureter, Ventricular septal... |
ORPHA:261344 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Depressed nasal ridge, Micrognathia... |
ORPHA:564 |
19P13.13 Microdeletion Syndrome |
|
High palate, Macroglossia, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Narrow m... |
ORPHA:357001 |
Peho Syndrome |
|
Abnormal upper lip morphology, Short nose, Abnormal palate morphology, Anteverted nares, Malar fl... |
ORPHA:2836 |
Micro Syndrome |
|
High palate, Wide nasal bridge, Micrognathia, Short philtrum, Short nose, Anteverted nares |
ORPHA:2510 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Wide nasal bridge, Macroglossia, Short nose, Abnormal morphology of ulna, ... |
ORPHA:93 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Mitral valve prolapse, Bruising susceptibility, Fragile skin, Poor wound he... |
OMIM:130000 |
Prader-Willi Syndrome |
|
Iris hypopigmentation, Radial deviation of finger, Short palm, Abdominal obesity, Genu valgum, Fr... |
OMIM:176270 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pericardial effusion, Hydrocephalus, Macroglossia, Hypertrophic cardiomyopathy, Biventr... |
OMIM:261740 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Abnormal pulmonary vein morphology, Hypoxemia, Pericardial effusion |
ORPHA:199241 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Dental malocclusion, Tapered finger, Wide nasal bridge, Clinodactyly, Down-sloping shoulders, Mic... |
OMIM:615560 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Short philtrum, Microretrognathia, Short nose, Short co... |
OMIM:613603 |
Cerebrooculonasal Syndrome |
|
Narrow palate, High palate, Long philtrum, Proboscis, Short nose, Solitary median maxillary centr... |
OMIM:605627 |
Ataxia-Telangiectasia |
|
Failure to thrive, Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
Developmental And Epileptic Encephalopathy 90 |
|
Limb hypertonia, Atrial septal defect |
OMIM:301058 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level |
OMIM:613673 |
Microform Holoprosencephaly |
|
Short philtrum, Short nose, Midnasal stenosis, Narrow nasal bridge, Solitary median maxillary cen... |
ORPHA:280200 |
Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Renal dysplasia, Hydroureter, Renal cyst, Ec... |
OMIM:146510 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Coarctation of aor... |
OMIM:264480 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Deep philtrum, Short nose, Depressed nasal bridge, Anteverted nares |
OMIM:613320 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Knee flexion contracture, Ventricular septal defect, Atrial septal defe... |
ORPHA:435638 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Bilateral choanal atresia/stenosis, Wide nasal bridge, Micrognathia, Hypopla... |
ORPHA:314679 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Flexion contracture, Encephalocele, Calf muscle hypertrophy, Congenital muscular dystrophy, Hydro... |
OMIM:253800 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Joint contracture o... |
OMIM:244300 |
Down Syndrome |
|
Narrow palate, Depressed nasal ridge, Thick lower lip vermilion, Microdontia, Macroglossia, Short... |
ORPHA:870 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Death in infancy, Jaundice, Atrial septal defect... |
OMIM:208085 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Holoprosencephaly 7 |
|
Wide nasal bridge, Hypoplasia of the premaxilla, Bilateral cleft lip, Absent nasal septal cartila... |
OMIM:610828 |
Short-Rib Thoracic Dysplasia 12 |
|
Lobulated tongue, Periportal fibrosis, Natal tooth, Median cleft lip and palate, Median cleft lip... |
OMIM:269860 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Redundant neck skin, Ventricular septal defect, Atrial septal defect |
ORPHA:2519 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Hypoplasia of penis, Ventricular septal defect |
ORPHA:2328 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
High palate, Long philtrum, Wide nasal bridge, Micrognathia, Short nose, Broad nasal tip, Smooth ... |
OMIM:300749 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Short nose, Depressed nasal bridge, Absent cupid's bow, Bulbous nose, Choanal atresia |
ORPHA:284169 |
Rhombencephalosynapsis |
|
Anteverted nares, Narrow mouth, Microretrognathia, Short nose |
ORPHA:59315 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Ventricular septal defect, Death in infancy, Hydrocephalus, Atrial sept... |
OMIM:614576 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Abnormal heart morphology |
ORPHA:1867 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Hepatic arteriovenous malformation, Ischemic stroke, Fingerpad telangiectases, Subarach... |
OMIM:187300 |
Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Secundum atrial septa... |
OMIM:612562 |
Desmosterolosis |
|
Retrognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Short nose, Depressed nasal... |
ORPHA:35107 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Renal agenesis, Atria... |
OMIM:115470 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Bifid uvula, Submucous cleft hard palate, Short philtrum, Hypoplasia of th... |
ORPHA:1299 |
Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Umbilical hernia, Atrial septal defect, Patent ductus arteriosus |
ORPHA:404443 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Peri... |
OMIM:613001 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, High palate, Hypodontia, Biliary tract abnormality, Dental crowding, High, narr... |
OMIM:209900 |
Cowden Syndrome 5 |
|
High palate, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Furrowed tongue |
OMIM:615108 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Hepatic steatosis, Thin upper lip vermilion, Pancreatic fibrosis, Hepatomegaly,... |
OMIM:616263 |
Pagod Syndrome |
|
Abnormal aortic morphology, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality o... |
ORPHA:991 |
Joubert Syndrome 14 |
|
Renal cyst, Intracranial hemorrhage, Ventricular septal defect |
OMIM:614424 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect |
OMIM:618223 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood |
OMIM:300908 |
Acute Interstitial Pneumonia |
|
Cyanosis, Hypoxemia, Pericardial effusion |
ORPHA:79126 |
Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Conotruncal defect, Abnormal cardiac septum morphology, Hypoplasia of peni... |
ORPHA:96147 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Rhabdomyolysis, Cardiomyopathy |
ORPHA:159 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Aplastic clavicle, Aplasia/hypoplasia of the femur, Clinodactyly of the 5t... |
ORPHA:2769 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Hydronephrosis |
ORPHA:1780 |
Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... |
ORPHA:107 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Short hallux, Postaxial hand polyd... |
OMIM:304120 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Narrow palate, Wide anterior fontanel, High palate, Micrognathia, Hypoplasia... |
OMIM:182212 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Webbed neck, Aortopulmonary window, Ventricular septal defect, Diaphragmati... |
OMIM:620025 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High palate, Long philtrum, Prominent nasolabial fold, Short nose, Broad nasal tip, Anteverted na... |
ORPHA:357074 |
Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Widely spaced teeth, Micrognathia, Short nail, Fine hair, Everted lower lip v... |
OMIM:614099 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Multicystic kidney dysplasia, Ventricular septal defect |
OMIM:619980 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Microdontia, Iris hypopigmentation, Abnormal thumb morphology, Short nose, Ingui... |
ORPHA:2719 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Atrial septal defect |
ORPHA:1035 |
Arnold-Chiari Malformation Type Ii |
|
Cyanosis, Meningocele, Myelomeningocele, Aqueductal stenosis, Hand muscle atrophy, Hydrocephalus,... |
ORPHA:1136 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis, Intracranial hemorrhage |
ORPHA:49566 |
White Forelock With Malformations |
|
Spina bifida occulta, Atrial septal defect |
ORPHA:2475 |
Paget Disease Of Bone 2, Early-Onset |
|
Femoral bowing, Short femur, Osteosclerosis of the ulna, Premature loss of teeth, Bowing of the l... |
OMIM:602080 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Eruption failure, High palate, Long philtrum, Micrognathia, Short nose, Dental crowding, Abnormal... |
ORPHA:476126 |
Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... |
OMIM:609192 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defect, ... |
ORPHA:230851 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Atrial septal defect |
ORPHA:521308 |
Tangier Disease |
|
Carotid artery stenosis, Coronary artery stenosis, Accelerated atherosclerosis, Left ventricular ... |
ORPHA:31150 |
Temple-Baraitser Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:611816 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis, Renal insufficiency, Cardiomyopathy |
ORPHA:445038 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Downturned corners of mouth, Narrow palate, Short nose |
OMIM:614222 |
Meier-Gorlin Syndrome 5 |
|
Long philtrum, Micrognathia, Submucous cleft hard palate, Hypoplasia of the maxilla, Thick vermil... |
OMIM:613805 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, High palate, Wide nasal bridge, Short nose |
OMIM:618005 |
Alkuraya-Kucinskas Syndrome |
|
High palate, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares |
OMIM:617822 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Cowden Syndrome 6 |
|
High palate, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Furrowed tongue |
OMIM:615109 |
Lathosterolosis |
|
Thick upper lip vermilion, High palate, Long philtrum, Wide nasal bridge, Bilobate gallbladder, M... |
OMIM:607330 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Hydrocephalus, Atrial septal defect, Dysplastic ... |
OMIM:612863 |
Macrocephaly/Autism Syndrome |
|
High palate, Long philtrum, Short nose, Depressed nasal bridge, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Abnormal localization of kidney,... |
ORPHA:1834 |
Trisomy 20P |
|
Micrognathia, Microdontia, Short philtrum, Short nose, Everted lower lip vermilion, Downturned co... |
ORPHA:261318 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Stroke, Coronary artery stenosis |
OMIM:615812 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Ascending tubular aorta aneurysm, Camptodactyly, Ascending aortic dissectio... |
OMIM:610168 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dysplasia |
ORPHA:1001 |
Dermotrichic Syndrome |
|
Depressed nasal bridge, Short nose |
ORPHA:99688 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia |
OMIM:614887 |
Saethre-Chotzen Syndrome |
|
Convex nasal ridge, Narrow palate, Hypoplasia of the maxilla, Depressed nasal bridge, Cleft palat... |
ORPHA:794 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hypopigmentation of hair |
ORPHA:70472 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Narrow palate, High palate, Wide mouth, Deep philtrum, Short nose, Anteverte... |
OMIM:227330 |
Recombinant 8 Syndrome |
|
Patent ductus arteriosus, Camptodactyly of finger, Abnormality of the neck, Ventricular septal de... |
ORPHA:96167 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Osteoglophonic Dysplasia |
|
Eruption failure, Mandibular prognathia, High palate, Long philtrum, Short nose, Depressed nasal ... |
OMIM:166250 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Micrognathia, Short nose, Narrow mouth, Abnormality of the dentition |
ORPHA:90154 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Tapered finger, Long philtrum, Wide nasal bridge, Craniofacial asymmetry, ... |
OMIM:601088 |
Eec Syndrome |
|
Toe syndactyly, Microdontia, Taurodontia, Tooth agenesis, Coarse hair, Ectrodactyly, Cleft palate... |
ORPHA:1896 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Thin vermilion border, Downturned corners of mouth, Short philtrum, Short nose |
ORPHA:2983 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:301043 |
Stevenson-Carey Syndrome |
|
Left superior vena cava draining to coronary sinus, Joint contracture of the hand, Camptodactyly,... |
OMIM:611961 |
Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Bifid ureter, Ventricular septal defect, Renal dysplasia, Renal malrotation, Mitr... |
OMIM:617107 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase concentration |
OMIM:611881 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Increased nuchal translucency, Exc... |
ORPHA:1860 |
Eisenmenger Syndrome |
|
Patent ductus arteriosus, Cyanosis, Atrioventricular canal defect, Bacterial endocarditis, Aortop... |
ORPHA:97214 |
Cardiofaciocutaneous Syndrome 1 |
|
Dental malocclusion, Splenomegaly, High palate, Deep philtrum, Micrognathia, Submucous cleft hard... |
OMIM:115150 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Dental malocclusion, Tooth malposition, Bifid tongue... |
ORPHA:97360 |
Mednik Syndrome |
|
Hepatic fibrosis, Cholestasis, Cirrhosis |
OMIM:609313 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Jaundice, Polycystic liver disease, Bile duct proliferation, ... |
OMIM:208500 |
Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Secundum atrial s... |
OMIM:249420 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Bloom Syndrome |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Agenesis of maxillary lateral incisor, Small for... |
OMIM:210900 |
Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Bilateral superior vena cava with no bridging vein, ... |
OMIM:618460 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect,... |
OMIM:618454 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Endocardial fibroelastosis, Ventricular septal defect, Renal dysplasia,... |
ORPHA:99776 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Renal Cysts And Diabetes Syndrome |
|
Stage 5 chronic kidney disease, Glycosuria, Abnormality of the kidney, Decreased numbers of nephr... |
OMIM:137920 |
Dravet Syndrome |
|
Cyanotic episode, Limited neck range of motion |
ORPHA:33069 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Diaphragmatic eventration, Noncompaction cardiomyopathy, Atrial septal de... |
OMIM:610198 |
Pfeiffer Syndrome Type 2 |
|
High palate, Short nose, Depressed nasal bridge, Malar flattening, Cleft palate, Choanal atresia |
ORPHA:93259 |
Tarp Syndrome |
|
Cyanosis, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect |
ORPHA:2886 |
Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Webbed neck, Ventricular septal defect, Mitral va... |
OMIM:609942 |
Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Patchy hypopigme... |
ORPHA:233 |
Fucosidosis |
|
Vascular skin abnormality, Cardiomegaly, Decreased muscle mass, Acrocyanosis |
ORPHA:349 |
Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Wide mouth, Short nose, Everted lower lip vermilion, Cleft palate |
ORPHA:1912 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Premature graying o... |
ORPHA:363618 |
Ruvalcaba Syndrome |
|
Convex nasal ridge, Short nose, Narrow mouth, Thin vermilion border, Dental crowding |
ORPHA:3121 |
Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal stenosis, Short nose, Bilateral choanal atresia, Depressed nasal bridge, Anteverted nares... |
OMIM:619859 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnormalities, Distal... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnormalities, Distal... |
ORPHA:590 |
Adams-Oliver Syndrome |
|
Cirrhosis, Portal hypertension, Congenital hepatic fibrosis |
ORPHA:974 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Tapered finger, Micrognathia, Synophrys, Slender finger, Smooth philtrum, Sparse hair, Agenesis o... |
OMIM:619841 |
Desmosterolosis |
|
Micrognathia, Gingival fibromatosis, Short nose, Hypoplastic nasal bridge, Alveolar ridge overgro... |
OMIM:602398 |
Dyskeratosis Congenita |
|
Cirrhosis, Hepatic failure, Periodontitis, Hypodontia, Neoplasm of the pancreas, Taurodontia, Hyp... |
ORPHA:1775 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s... |
OMIM:616777 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Thick vermilion border, Downturned corners of mouth, Anteverted nares, Short nose |
ORPHA:1185 |
Microphthalmia, Syndromic 2 |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Mitral valve ... |
OMIM:300166 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Facial hypotonia, Decreased muscle mass, Atrial septal defect |
ORPHA:500533 |
Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Patent foramen ovale, Congenital finger flexion contractures, Decreased mus... |
OMIM:615582 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Multicystic kidney dysplasia, Arteriovenous malformation, Arterial sten... |
ORPHA:1556 |
Au-Kline Syndrome |
|
Retrognathia, Dental malocclusion, Underdeveloped nasal alae, Bifid tongue, High palate, Oligodon... |
OMIM:616580 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Mandibular prognathia, Wide mouth, Widely spaced teeth, Iris hypopi... |
ORPHA:98794 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Generalized h... |
ORPHA:3322 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, High palate, Wide nasal bridge, Widely spaced teeth, Bulbous nose, Sho... |
OMIM:615803 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short nose, Tented upper lip vermilion, Depressed nasal bridge, Malar flattening, Thick vermilion... |
OMIM:616723 |
Autosomal Recessive Robinow Syndrome |
|
Bifid tongue, Long philtrum, Wide nasal bridge, Wide mouth, Abnormality of the dentition, Microgn... |
ORPHA:1507 |
Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... |
ORPHA:14 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia |
ORPHA:464453 |
Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Short nose... |
OMIM:247200 |
3Mc Syndrome 2 |
|
Cleft upper lip, High palate, Wide nasal bridge, Prominence of the premaxilla, Downturned corners... |
OMIM:265050 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Ab... |
ORPHA:2973 |
Distal Monosomy 10Q |
|
Prominent nose, High palate, Wide nasal bridge, Micrognathia, Short nose, Thin upper lip vermilio... |
ORPHA:96148 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Underdeveloped nasal alae, Mandibular prognathia, Long philtrum, Micrognathia, Short nose, Depres... |
OMIM:616007 |
Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect... |
OMIM:619268 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Short toe, Mandibular prognathia, Short metacarpal, Absent/hypoplastic p... |
ORPHA:280651 |
Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, Webbed neck, Ventricular septal defect, Atrial septal defect |
OMIM:618950 |
Autosomal Dominant Robinow Syndrome |
|
Retrognathia, Wide nose, Bifid tongue, Long philtrum, Wide nasal bridge, High, narrow palate, Mic... |
ORPHA:3107 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Cleft upper lip, High palate, Wide nasal bridge, Micrognathia, Recurrent sinusitis, Sh... |
OMIM:213980 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia |
ORPHA:70587 |
Blomstrand Lethal Chondrodysplasia |
|
Long philtrum, Natal tooth, Micrognathia, Short nose, Depressed nasal bridge, Protruding tongue, ... |
ORPHA:50945 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Hypersplenism, Jaundice, Ele... |
ORPHA:275761 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Hypodontia, Narrow nasal bridge, Short nose |
ORPHA:544503 |
Kaufman Oculocerebrofacial Syndrome |
|
High palate, Micrognathia, Diastema, Short nose, Thin upper lip vermilion, Depressed nasal bridge... |
OMIM:244450 |
Esophageal Atresia |
|
Cyanosis, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta |
ORPHA:1199 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Short nose, Downturned corners of mouth, Anteverted nares, Malar flattening, Abnormality of the d... |
OMIM:612394 |
Burn-Mckeown Syndrome |
|
Hypomimic face, Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Weill-Marchesani Syndrome 1 |
|
Narrow palate, Abnormality of dental morphology, Hypoplasia of the maxilla, Depressed nasal bridg... |
OMIM:277600 |
Graft Versus Host Disease |
|
Hyperbilirubinemia |
ORPHA:39812 |
Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
Roberts Syndrome |
|
Polycystic kidney dysplasia, Long penis |
ORPHA:3103 |
Geroderma Osteodysplasticum |
|
Hypoplasia of the maxilla, Malar flattening, Mandibular prognathia, Periodontitis |
OMIM:231070 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Patent ductus arteriosus, Camptodactyly of finger, Facial telangiectasia, Ventricular septal defe... |
OMIM:602782 |
Stickler Syndrome |
|
Cleft upper lip, Depressed nasal ridge, Long philtrum, Advanced eruption of teeth, Micrognathia, ... |
ORPHA:828 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Wide nasal bridge, Aplasia/hypoplasia of the femur, Elbow flexion contra... |
OMIM:276820 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
ORPHA:457193 |
Eosinophilic Fasciitis |
|
Myositis, Muscular edema, Acrocyanosis |
ORPHA:3165 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares, Tri... |
OMIM:257300 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Mitral valve p... |
OMIM:300989 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cyanosis, Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Fingerpad t... |
OMIM:600376 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Long philtrum, Prominent nasolabial fold, Microretrognathia, Short nose, Thin upper ... |
ORPHA:2953 |
Myhre Syndrome |
|
Mandibular prognathia, Gingival cleft, Abnormal lip morphology, Bifid uvula, Craniofacial hyperos... |
ORPHA:2588 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Short nose, Depressed nasal bridge, Anteverted nares, Malar flattening, Bu... |
OMIM:271510 |
Otopalatodigital Syndrome Type 2 |
|
Pierre-Robin sequence, Hypoplastic frontal sinuses, Micrognathia, Oligodontia, Anodontia, Short n... |
ORPHA:90652 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Premature graying of hair, Wide nasal bridge, Synophrys, White eyelashes, ... |
OMIM:193500 |
Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Ventricular septal defect, Craniofacial asymmetry, Atrial septal defect... |
ORPHA:1708 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow nasal bridge, Bulbous ... |
OMIM:259600 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Hypoxemia |
ORPHA:1302 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Schneckenbecken Dysplasia |
|
Malar flattening, Cleft palate, Short nose |
OMIM:269250 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Short nose |
OMIM:614732 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Congenital Disorder Of Deglycosylation 1 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Anteverted nares, Hepatomegaly, Open mouth |
OMIM:615273 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Poor wound healing, Atrial septal defect, Bruising susceptibility |
OMIM:619115 |
Adenylosuccinase Deficiency |
|
Long philtrum, Wide mouth, Short nose, Thin upper lip vermilion, Smooth philtrum, Anteverted nares |
OMIM:103050 |
Coffin-Siris Syndrome |
|
Wide mouth, Delayed eruption of teeth, Thick lower lip vermilion, Short nose, Hepatoblastoma, Thi... |
ORPHA:1465 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
High palate, Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares, T... |
OMIM:614080 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect |
ORPHA:89844 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
Trisomy 10P |
|
Retrognathia, Absent gallbladder, High palate, Micrognathia, Abnormal lip morphology, Short nose,... |
ORPHA:171929 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Wide nasal bridge, Prominent nasal bridge, Short nose, Protruding tongue, Gingival... |
OMIM:619179 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Meier-Gorlin Syndrome 6 |
|
Underdeveloped nasal alae, Depressed nasal ridge, Microretrognathia, Short nose, Depressed nasal ... |
OMIM:616835 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Joint contracture of the 5th finger |
OMIM:614407 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Limb hypertonia, Atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:617190 |
Coffin-Siris Syndrome 6 |
|
Diaphragmatic eventration, Atrial septal defect |
OMIM:617808 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Baller-Gerold Syndrome |
|
High palate, Micrognathia, Short nose, Narrow nasal bridge, Narrow mouth, Cleft palate, Prominent... |
ORPHA:1225 |
Alagille Syndrome 1 |
|
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Ventricular ... |
OMIM:118450 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangio... |
OMIM:191100 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Bifid tongue, Wide nasal bridge, Micrognathia, Hip dislocation, Tooth agenesi... |
ORPHA:818 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Restrictive cardiomyopathy, Congenital megaureter, Renal dysplasia, Atr... |
ORPHA:369837 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypoplastic left heart, Multicystic kidney dysplasia |
OMIM:618829 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Ventricular septal defect, Hydrocephalus, Stroke-like episode, Cardiomegaly |
ORPHA:137675 |
Distal Monosomy 9P |
|
Wide nasal bridge, Short nose, Cleft palate, High, narrow palate, Abnormality of the dentition |
ORPHA:1642 |
Cowden Syndrome 1 |
|
High palate, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Furrowed tongue |
OMIM:158350 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Unilateral Polymicrogyria |
|
Cyanosis, Pulmonary arteriovenous malformation, Stroke, Abnormal heart morphology |
ORPHA:268943 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Camurati-Engelmann Disease |
|
Genu valgum, Mandibular prognathia, Reduced subcutaneous adipose tissue, Cortical thickening of l... |
OMIM:131300 |
Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Increased circulating copper concentration, Hy... |
OMIM:277900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... |
OMIM:601808 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Wide nasal bridge, Microdontia, Hypodontia, Oligodontia, Short philtrum, Hypoplasia of the maxill... |
OMIM:180500 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Retrognathia, Hepatic fibrosis, Biliary cirrhosis, High palate, Cirrhosis, Micrognathia, Aplasia/... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Retrognathia, Hepatic fibrosis, Biliary cirrhosis, High palate, Cirrhosis, Micrognathia, Aplasia/... |
ORPHA:99228 |
Monosomy X |
|
Retrognathia, Hepatic fibrosis, Biliary cirrhosis, High palate, Cirrhosis, Micrognathia, Aplasia/... |
ORPHA:99226 |
Turner Syndrome |
|
Retrognathia, Hepatic fibrosis, Biliary cirrhosis, High palate, Cirrhosis, Micrognathia, Aplasia/... |
ORPHA:881 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Renal agenesis, Hypoplasia of p... |
ORPHA:887 |
Orofaciodigital Syndrome Type 4 |
|
Retrognathia, Wide nose, Depressed nasal ridge, Micrognathia, Oral synechia, Aplasia/Hypoplasia o... |
ORPHA:2753 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Atrial septal defect |
OMIM:611087 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Cleft soft palate, Wide nasal bridge, Micrognathia, Short nose, Submucous cleft soft palate, Ante... |
ORPHA:2282 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Patent ductus arteriosus, Knee flexion contracture, Hydrocephalus, Elbow contracture, Atrial sept... |
OMIM:618162 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Micrognathia, Short nose, Depressed nasal bridge, Narrow mouth, Bulbous nose |
OMIM:614114 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Umbilical hernia, Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
Kleefstra Syndrome 1 |
|
Hypospadias, Abnormal renal morphology, Conotruncal defect, Micropenis |
OMIM:610253 |
Noonan Syndrome 4 |
|
Webbed neck, Ventricular septal defect, Atrial septal defect, Bruising susceptibility, Hypertroph... |
OMIM:610733 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:602482 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Microdontia, Hypodontia, Multiple lentigines, Failure to thrive, Hypop... |
ORPHA:1830 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Duplicated collecting system, Ureteropelvic junction obstruction, Peri... |
OMIM:280000 |
1P21.3 Microdeletion Syndrome |
|
Micrognathia, Broad nasal tip, Wide mouth, Short nose |
ORPHA:293948 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Epidural hemorrhage, Enlarged kidney, Pericardial effusion, Multiple renal cyst... |
ORPHA:464329 |
Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Prominent nasal bridge,... |
OMIM:613803 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Mucopolysaccharidosis-Plus Syndrome |
|
Patent ductus arteriosus, Flexion contracture, Macroglossia, Atrial septal defect, Hypertrophic c... |
OMIM:617303 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Perimembranous ventricular septal... |
ORPHA:83617 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flexion contracture, Short neck, Ventricular septal defect, Atrial septal defect |
OMIM:617452 |
Weiss-Kruszka Syndrome |
|
Exaggerated cupid's bow, Broad philtrum, Anteverted nares, Short nose |
OMIM:618619 |
Argininosuccinic Aciduria |
|
Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly |
OMIM:207900 |
Alagille Syndrome |
|
Ventricular septal defect, Atrial septal defect, Spina bifida occulta, Peripheral pulmonary arter... |
ORPHA:52 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Narrow mouth, Malar ... |
OMIM:601353 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Aortic aneurysm, D... |
ORPHA:3342 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch, Unilateral renal agenesis |
ORPHA:457284 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Narrow mouth, Anteverted nares, ... |
ORPHA:508533 |
Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Absence of renal corticomedullar... |
OMIM:613254 |
Fg Syndrome Type 1 |
|
Broad neck, Mitral valve prolapse, Hydrocephalus, Atrial septal defect, Coarctation of aorta, Pro... |
ORPHA:93932 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Narrow mouth, Anteverted nares, Short nose |
OMIM:613735 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Short foot, Small hand, Hip dysplasia, Failure to thrive, Thin uppe... |
ORPHA:398079 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Reduced subcutaneous adipose tissue, Mitral valve prolapse, Hydrocephalus, ... |
OMIM:616914 |
16P13.11 Microdeletion Syndrome |
|
Cleft upper lip, Wide mouth, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Smooth... |
ORPHA:261236 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Abnormal mitral valve morphology, Transient ischemic attack, Stroke, Right ventricular ... |
ORPHA:99103 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Neonatal death, Hypoxemia, Death in infancy |
OMIM:610921 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Long philtrum, Wide nasal bridge, Micrognathia, Macroglossia, Short nose, Depressed ... |
OMIM:613457 |
Aicardi-Goutières Syndrome |
|
Moyamoya phenomenon, Multiple joint contractures, Arrhinencephaly, Calcification of the aorta, Ac... |
ORPHA:51 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Wide anterior fontanel, Long philtrum, Submucous cleft hard palate, Short nose, Thin... |
ORPHA:457279 |
Noonan Syndrome 5 |
|
Webbed neck, Atrial septal defect, Hypertrophic cardiomyopathy, Short neck, Pulmonic stenosis |
OMIM:611553 |
Ablepharon Macrostomia Syndrome |
|
Underdeveloped nasal alae, Wide mouth, Microdontia, Hypoplasia of the maxilla, Depressed nasal br... |
ORPHA:920 |
Sotos Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Advanced eruption of teeth, Atrial septal de... |
OMIM:117550 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Long philtrum, Wide nasal bridge, Wide mouth, Micrognathia, Microdontia, Bifid uvula, ... |
OMIM:613458 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Abnormal cardiac septum morphology |
ORPHA:2075 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
Tyshchenko Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615102 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Calcification of the aorta, Hypoxemia, Oxygen desaturation on exertion, Mitral valve ca... |
ORPHA:60025 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:617660 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Hypoxemia |
ORPHA:91359 |
Potocki-Lupski Syndrome |
|
Patent foramen ovale, Atrial septal defect |
OMIM:610883 |
Opsismodysplasia |
|
Depressed nasal bridge, Splenomegaly, Hepatomegaly, Short nose |
ORPHA:2746 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Ventricular septal defect, Atrial septal defect |
OMIM:615879 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Vascular dilatation, Abnormal cerebral vascular morphology, Atrial sept... |
ORPHA:2637 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Ischemic stroke, Vent... |
OMIM:619503 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
High palate, Long philtrum, Micrognathia, Short nose, Smooth philtrum, Tented upper lip vermilion |
OMIM:617527 |
Marshall-Smith Syndrome |
|
Retrognathia, Irregular dentition, Choanal stenosis, High palate, Microdontia, Gingival overgrowt... |
OMIM:602535 |
Coffin-Lowry Syndrome |
|
Wide nose, Dental malocclusion, Mandibular prognathia, Narrow palate, High palate, Widely spaced ... |
OMIM:303600 |
Zttk Syndrome |
|
Absent gallbladder, High palate, Wide nasal bridge, Bifid uvula, Submucous cleft hard palate, Sho... |
OMIM:617140 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Ventricular septal defect, Branc... |
ORPHA:453499 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, Camptodactyly, Macroglossia, Atrial septal defect |
ORPHA:397709 |
Craniosynostosis And Dental Anomalies |
|
Wide nose, Dental malocclusion, Mandibular prognathia, Convex nasal ridge, Narrow palate, High pa... |
OMIM:614188 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of dental morphology, Scarring, Alopecia universalis, Failure to thrive, Nail dystrop... |
ORPHA:158668 |
Marden-Walker Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Ventricular septal defect, Renal dysplasia, Renal h... |
ORPHA:2461 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Renal cyst, Hypos... |
ORPHA:464311 |
Chromosome 10Q26 Deletion Syndrome |
|
Patent ductus arteriosus, Webbed neck, Atrial septal defect, Short neck, Low posterior hairline, ... |
OMIM:609625 |
Noonan Syndrome 7 |
|
Webbed neck, Atrial septal defect, Hypertrophic cardiomyopathy, Short neck, Low posterior hairlin... |
OMIM:613706 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Short neck, Limb joint contracture, Ventricular septal defect, Atrial septal defect |
ORPHA:505237 |
Distal Monosomy 19P13.3 |
|
Hypoplasia of the maxilla, Cleft palate, Short philtrum |
ORPHA:96129 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short nose, Wide nasal base, Smooth tongue, Anteverted nares, Pursed lips, Carious ... |
OMIM:601559 |
Roberts-Sc Phocomelia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Polycystic kidney dysplasia, Long penis, Atr... |
OMIM:268300 |
Menkes Disease |
|
Chondrocalcinosis, Hernia, Micrognathia, Woolly hair, Inguinal hernia, Abnormal palate morphology... |
ORPHA:565 |
Insulin-Like Growth Factor I, Resistance To |
|
Patent foramen ovale, Webbed neck, Ventricular septal defect, Reduced subcutaneous adipose tissue... |
OMIM:270450 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessel... |
ORPHA:740 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Ventricular hypertrophy, Cardiomegaly, Arterial calcification, Abnormal retinal artery ... |
ORPHA:51608 |
Plaa-Associated Neurodevelopmental Disorder |
|
High palate, Long philtrum, Micrognathia, Short nose, Smooth philtrum, Tented upper lip vermilion |
ORPHA:521426 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney, Ventricular septal defect |
OMIM:250410 |
Shprintzen-Goldberg Syndrome |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Anteverted nares, High, narrow palate |
ORPHA:2462 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Hydroureter, Multicystic kidney dysplasia, Megacystis |
ORPHA:2241 |
3Q29 Microdeletion Syndrome |
|
High palate, Short philtrum, Short nose, Everted lower lip vermilion, Dental crowding, Abnormalit... |
ORPHA:65286 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Concentric hypertrophic cardiomyopathy, Death in infancy, Increased intramyocellular li... |
OMIM:252010 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Aortic root aneurysm, Patent foramen ovale, Webbed neck, Bicuspid aortic valve, Mitral valve prol... |
OMIM:245600 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... |
ORPHA:26793 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
Zechi-Ceide Syndrome |
|
Abnormal heart morphology, Atrial septal defect |
ORPHA:217017 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Congenital contracture |
ORPHA:261279 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Subaortic ventricular septal bulge, Left ventricular hypertrophy, At... |
OMIM:612098 |
Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Short foot, Small hand, Wide nasal bridge, Small for gestational ag... |
ORPHA:398073 |
Singleton-Merten Syndrome 1 |
|
Osteolytic defects of the phalanges of the hand, Hip subluxation, Coxa valga, Decreased body weig... |
OMIM:182250 |
Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, ... |
ORPHA:2745 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Wide nasal bridge, Short nose, Tented upper lip vermilion, Broad nasal tip, Cleft palate |
OMIM:614749 |
Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve,... |
OMIM:610443 |
Microphthalmia With Limb Anomalies |
|
Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Micrognathia, Hypoplas... |
ORPHA:1106 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Short neck, Ventricular septal defect, Atrial septal defect |
OMIM:609053 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
White-Kernohan Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Wide mouth, Short nose, Thin upper lip vermilion, Depres... |
OMIM:619426 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Flexion contracture, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Atrial septal defec... |
OMIM:619720 |
Monosomy 9P |
|
High palate, Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Narrow mouth, Antev... |
ORPHA:261112 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Retrognathia, Widely spaced teeth, Dental crowding, Short philtrum, Short nose, Solitary median m... |
OMIM:301044 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat... |
ORPHA:79430 |
Penile Agenesis |
|
Absent penis, Ventricular septal defect, Bilateral renal agenesis, Urethral fistula, Hydroureter,... |
ORPHA:49 |
Ear-Patella-Short Stature Syndrome |
|
Retrognathia, Mandibular aplasia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Hypopla... |
ORPHA:2554 |
Greenberg Dysplasia |
|
Retrognathia, Depressed nasal ridge, Micrognathia, Hepatosplenomegaly, Hypoplasia of the maxilla,... |
OMIM:215140 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Ventricular septal defect, Bicuspid aortic valve, Cutis marmorata, Atrial septal d... |
OMIM:100300 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Limb hypertonia |
OMIM:619580 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardi... |
ORPHA:261197 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Selective tooth agenesis, Toe syndactyly, Microdontia, Fair hair, Nail dysplasia, Blue irides, Cl... |
OMIM:129900 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... |
ORPHA:18 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Depressed nasal ridge, Short nose |
OMIM:300863 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Camptodactyly, Ascending aortic dissection, Thoracic ... |
OMIM:613795 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Narrow palate, Long philtrum, Micrognathia, Short nose, Anteverted nares |
ORPHA:109 |
Trichothiodystrophy 1, Photosensitive |
|
Retrognathia, Triangular mouth, Short nose |
OMIM:601675 |
X Small Rings |
|
Aortic root aneurysm, Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Short ne... |
ORPHA:96201 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Flexion contracture, Small hand, Hip dysplasia, Failure to thrive, ... |
ORPHA:398069 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Increased nuchal translucency, Varicose veins, Atrial septal defect |
OMIM:617300 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Renal cyst, Hypos... |
ORPHA:464306 |
Alazami Syndrome |
|
Cutis marmorata, Atrial septal defect |
ORPHA:319671 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Camptodactyly, Redundant neck skin, Atrial septal defect, Spina bifida... |
OMIM:617360 |
Deeah Syndrome |
|
Retrognathia, Narrow palate, High palate, Long philtrum, Prominent nasal tip, Short philtrum, Sho... |
OMIM:619004 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... |
OMIM:618748 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Retrognathia, Wide nose, Mandibular prognathia, Wide anterior fontanel, Wide nasal bridge, Long p... |
ORPHA:96334 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Narrow naris, Bifid uvula, Short philtrum, Short nose, ... |
ORPHA:1449 |
Menke-Hennekam Syndrome 1 |
|
Underdeveloped nasal alae, High palate, Depressed nasal ridge, Everted upper lip vermilion, Long ... |
OMIM:618332 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Cutis marmorata, Atri... |
OMIM:610759 |
Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Natal tooth, Atrial septal defect, Coarctation of aorta, Pulmonic ... |
OMIM:300867 |
Noonan Syndrome 13 |
|
Webbed neck, Mitral valve prolapse, Atrial septal defect, Bruising susceptibility, Short neck, Lo... |
OMIM:619087 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Cong... |
OMIM:309801 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Cystic renal dysplasia, Hydronephrosis |
OMIM:615989 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, High, narrow palate, Long philtrum |
ORPHA:1101 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Short foot, Small hand, Small for gestational age, Hip dysplasia, I... |
ORPHA:98754 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Dend Syndrome |
|
Downturned corners of mouth, Long philtrum, Anteverted nares, Short nose |
ORPHA:79134 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Short foot, Small hand, Small for gestational age, Hip dysplasia, I... |
ORPHA:177901 |
Zellweger Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis |
ORPHA:912 |
Wrinkly Skin Syndrome |
|
Palmoplantar cutis laxa, Wide nasal bridge, Delayed eruption of teeth, Microdontia, Smooth philtr... |
OMIM:278250 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts, Enlarged polycystic ovaries |
ORPHA:2869 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Single transverse palmar crease, Cafe-au-lait spot, Hypopigmentation of... |
OMIM:618541 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of teeth, Short nose, Narrow ... |
ORPHA:77301 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect |
OMIM:619721 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Increased size of nasopharyngeal adenoids, Ossifying fibroma of the jaw, Short nose, Tented upper... |
ORPHA:457395 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Narrow naris, Dental crowding, Short... |
OMIM:617157 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... |
OMIM:157800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Renal cyst, Renal hypoplasia |
OMIM:616300 |
Jaberi-Elahi Syndrome |
|
Triangular mouth, Depressed nasal bridge, Short nose |
OMIM:617988 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Triceps weakness, Elb... |
ORPHA:70 |
Trisomy 8P |
|
Retrognathia, Aplasia/Hypoplasia of the gallbladder, Bifid uvula, Short nose, Depressed nasal bri... |
ORPHA:264450 |
Wiedemann-Steiner Syndrome |
|
Patent ductus arteriosus, Contracture of the distal interphalangeal joint of the fingers, Atrial ... |
OMIM:605130 |
Degcags Syndrome |
|
Polydactyly, Premature graying of hair, Toe syndactyly, Micrognathia, Synophrys, Abnormal eyelash... |
OMIM:619488 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Hypoxemia, Ventricular septal defect, Atrial septal defect |
OMIM:610978 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Wrist flexion contracture, Atrial septal defect, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Oculoectodermal Syndrome |
|
Patent ductus arteriosus, Transient ischemic attack, Atrial septal defect, Coarctation of aorta, ... |
OMIM:600268 |
Helsmoortel-Van Der Aa Syndrome |
|
Long philtrum, Wide nasal bridge, Widely spaced teeth, Wide mouth, Advanced eruption of teeth, Mi... |
OMIM:615873 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, High palate, Long philtrum, Micrognathia, Microdontia, Short nose, Dep... |
ORPHA:536467 |
Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Subvalvular aortic stenosis, Abnormal aortic morphology, Multicystic kidney dyspl... |
ORPHA:1052 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia |
ORPHA:464321 |
Weill-Marchesani Syndrome 2 |
|
Narrow palate, High palate, Abnormality of dental morphology, Hypoplasia of the maxilla, Depresse... |
OMIM:608328 |
19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Short neck, Ventricular septal defect, Atrial septal defect |
ORPHA:254346 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Short foot, Small hand, Small for gestational age, Hip dysplasia, I... |
ORPHA:98793 |
Jacobsen Syndrome |
|
Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares, Annular pancreas, U-Shaped up... |
OMIM:147791 |
Baller-Gerold Syndrome |
|
Absent thumb, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Aphalangy of the hands, Cle... |
OMIM:218600 |
3Mc Syndrome 1 |
|
Patent ductus arteriosus, Diastasis recti, Ventricular septal defect, Atrial septal defect, Spina... |
OMIM:257920 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia |
OMIM:229600 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Wide mouth, Short nose, Cleft palate, Broad philtrum |
ORPHA:1394 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Short foot, Small hand, Small for gestational age, Hip dysplasia, I... |
ORPHA:177904 |
Sepsis In Premature Infants |
|
Cyanosis, Jaundice, Purpura, Petechiae |
ORPHA:90051 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Renal dysplasia, Rena... |
OMIM:192350 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Atrial septal defect |
OMIM:614526 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Elevated hepatic transaminase, Short nose |
OMIM:277450 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Abnormal right ventricle morphology, ... |
ORPHA:500095 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ventricular septal defect, Dilation of Virchow-Robin spaces, Atrial septal defect, Contracture of... |
OMIM:300998 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Spontaneous, recurrent epistaxis, Hepatosplenomegaly, Cholelithiasis, Abnormali... |
ORPHA:2072 |
Phace Syndrome |
|
Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal cardiac septum morphology, Ab... |
ORPHA:42775 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Cleft upper lip, Selective tooth agenesis, Microdontia, Absence ... |
OMIM:604292 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Renal ag... |
ORPHA:93111 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Small hand, Periodontitis, Hip dysplasia, Failure to thrive, Downtu... |
ORPHA:739 |
Schinzel-Giedion Syndrome |
|
Retrognathia, Choanal stenosis, High palate, Wide anterior fontanel, Wide mouth, Delayed eruption... |
ORPHA:798 |
Van Esch-O'Driscoll Syndrome |
|
Retrognathia, Wide mouth, Bifid uvula, Short nose, Depressed nasal bridge, Downturned corners of ... |
OMIM:301030 |
White-Sutton Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect, Congenital diaphragmatic he... |
OMIM:616364 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of the bladder, Recurrent urinary tract infections, Stag... |
OMIM:614527 |
Harrod Syndrome |
|
Hypospadias, Multicystic kidney dysplasia |
ORPHA:2115 |
17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia, Ureterocele |
ORPHA:261265 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Hydrocephalus, Camptodactyly, Atrial septal defect |
ORPHA:459061 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Secundum atrial septal defec... |
OMIM:618109 |
Al Kaissi Syndrome |
|
Torticollis, Atrial septal defect |
OMIM:617694 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysuria, Hyd... |
ORPHA:79404 |
Focal Dermal Hypoplasia |
|
Patent ductus arteriosus, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal cardi... |
ORPHA:2092 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:619314 |
Saethre-Chotzen Syndrome |
|
Convex nasal ridge, Narrow palate, Hypoplasia of the maxilla, Cleft of chin, Narrow nose, Long no... |
OMIM:101400 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Hypoxemia |
OMIM:610910 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Microretrognathia, Short nose, Thin upper lip vermi... |
ORPHA:280633 |
Vici Syndrome |
|
Cleft upper lip, Hypopigmentation of the skin, High palate, Everted upper lip vermilion, Long phi... |
OMIM:242840 |
Specc1L-Related Hypertelorism Syndrome |
|
Long philtrum, Wide nasal bridge, Advanced eruption of teeth, Short nose, Everted lower lip vermi... |
ORPHA:1519 |
Duane-Radial Ray Syndrome |
|
Vascular dilatation, Ventricular septal defect, Pectoralis hypoplasia, Atrial septal defect, Spin... |
OMIM:607323 |
Classical Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Umbilical hernia, Mitral valve prolapse, Acrocyanosis, Arterial dissection,... |
ORPHA:287 |
Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, High palate, Short nose |
ORPHA:93258 |
Nicolaides-Baraitser Syndrome |
|
Long philtrum, Wide mouth, Widely spaced teeth, Short lingual frenulum, Thick lower lip vermilion... |
OMIM:601358 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Micrognathia, Oligodontia, Sho... |
OMIM:309590 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Geleophysic Dysplasia 2 |
|
Long philtrum, Short nose, Thin upper lip vermilion, Hepatomegaly, Smooth philtrum |
OMIM:614185 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Cerebrocostomandibular Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Renal cyst, Ectopic ki... |
OMIM:117650 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Dextrocardia, Atrial septal defect |
OMIM:277380 |
Pearson Marrow-Pancreas Syndrome |
|
Hyperbilirubinemia |
OMIM:557000 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Atrial septal defect |
OMIM:620075 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Failure of eruption of permanent teeth, Short nose, Broad nasal tip, Anteverte... |
OMIM:272460 |
Trisomy 18 |
|
Non-midline cleft lip, Narrow palate, Microretrognathia, Short nose, Narrow mouth, Cleft palate, ... |
ORPHA:3380 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Ulbright-Hodes Syndrome |
|
Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology |
ORPHA:3404 |
Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Mitral atresia, Ventricular septal defect, Macroglossia, Atrial septal ... |
OMIM:614609 |
Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Joint contracture of t... |
OMIM:256520 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Peripheral arterial stenosis, Cutis marmorata |
OMIM:259900 |
Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Flexion contracture, Mitral valve prolaps... |
ORPHA:284979 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:618282 |
Mody |
|
Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria |
ORPHA:552 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Flexion contracture, Atrial septal defect, Generalized limb muscle atrophy |
OMIM:618891 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Epididymal cyst, Multipl... |
ORPHA:892 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Aortic aneurysm, Hydrocephalus, Cutis marmor... |
ORPHA:96121 |
Simpson-Golabi-Behmel Syndrome |
|
Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Wide mouth, Polysplenia, Macroglossia,... |
ORPHA:373 |
Fontaine Progeroid Syndrome |
|
Retrognathia, Mandibular prognathia, Convex nasal ridge, Wide anterior fontanel, Long philtrum, M... |
OMIM:612289 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Atrial septal defect, Hydronephrosis |
ORPHA:85201 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Wide nose, Cleft upper lip, Bifid tongue, Long philtrum, Micrognathia, Depressed nasal bridge, Co... |
ORPHA:93271 |
Chediak-Higashi Syndrome |
|
Gingivitis, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Periodontitis, Ocular... |
OMIM:214500 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Enlarged naris, High palate, Wide anterior fontanel, Depressed nasal ridge, Long philtrum, Microg... |
OMIM:271665 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Meier-Gorlin Syndrome 1 |
|
High palate, Micrognathia, Microdontia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate, Th... |
OMIM:224690 |
Microlissencephaly-Micromelia Syndrome |
|
Long philtrum, Short nose |
ORPHA:50810 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Periportal fibrosis, Elevated hepatic transaminase, Cholangitis... |
OMIM:124000 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect,... |
OMIM:616975 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Tako-Tsubo Cardiomyopathy |
|
Coronary artery atherosclerosis, Dilatation of the ventricular cavity, Coronary artery stenosis, ... |
ORPHA:66529 |
Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Ventricular septal defect, Renal cyst, Reduced renal corticomedullary diff... |
OMIM:122470 |
Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hematuria, Chylopericardium, Renal neoplasm, Abnormal urinary color, Multip... |
ORPHA:538 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Myhre Syndrome |
|
Mandibular prognathia, Short philtrum, Hypoplasia of the maxilla, Thin upper lip vermilion, Narro... |
OMIM:139210 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Pericardial effusion, Mitral valve pr... |
ORPHA:536532 |
Reynolds Syndrome |
|
Hyperbilirubinemia, Calcinosis |
OMIM:613471 |
Chops Syndrome |
|
Long philtrum, Short nose, Downturned corners of mouth, Anteverted nares, High, narrow palate, Sp... |
OMIM:616368 |
Chime Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallo... |
ORPHA:3474 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperbilirubinemia |
OMIM:619475 |
Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Renal agenesis, Unilateral renal agenesis, A... |
OMIM:270400 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
Pfeiffer Syndrome Type 3 |
|
High palate, Short nose, Depressed nasal bridge, Cleft palate, Choanal atresia |
ORPHA:93260 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal pericardium morphology, Renal cyst, Abnormality of bladder morphology,... |
ORPHA:284 |
Dermatomyositis |
|
Cutaneous photosensitivity, Acrocyanosis, Pericarditis, Inflammatory myopathy, Erythema, Telangie... |
ORPHA:221 |
Postinfectious Vasculitis |
|
Vascular dilatation, Bacterial endocarditis, Ischemic stroke, Cerebral vasculitis, Acrocyanosis, ... |
ORPHA:48435 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Patent foramen ovale, Flexion contracture, Hydrocephalus, Macroglossia,... |
ORPHA:505248 |
Omodysplasia 1 |
|
Long philtrum, Wide nasal bridge, Micrognathia, Short nose, Depressed nasal bridge, Malar flattening |
OMIM:258315 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
Radio-Renal Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia |
ORPHA:3015 |
Geleophysic Dysplasia 1 |
|
Long philtrum, Wide mouth, Short nose, Smooth philtrum, Anteverted nares, Hepatomegaly |
OMIM:231050 |
8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Atrial septal defect |
ORPHA:251066 |
Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia |
OMIM:613610 |
1P36 Deletion Syndrome |
|
Patent ductus arteriosus, Aortic arch aneurysm, Abnormal cardiac septum morphology, Abnormality o... |
ORPHA:1606 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Short neck |
OMIM:616546 |
Joubert Syndrome 2 |
|
Nephronophthisis, Renal insufficiency, Renal cyst |
OMIM:608091 |
Sponastrime Dysplasia |
|
Wide nose, Obtuse angle of mandible, Aplasia of the nasal bone, Mandibular prognathia, Hypoplasia... |
ORPHA:93357 |
Achondrogenesis, Type Ia |
|
Short nose, Hypoplastic nasal bridge, Depressed nasal bridge, Protruding tongue, Anteverted nares |
OMIM:200600 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Choanal stenosis, Macroglossia, Short nose, Hepatoblastoma, Depressed nasal bridge, Splenopancrea... |
OMIM:269150 |
C Syndrome |
|
High palate, Long philtrum, Micrognathia, Accessory oral frenulum, Short nose, Depressed nasal br... |
ORPHA:1308 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Narrow mouth, Long upper lip, An... |
ORPHA:536471 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal defect, S... |
OMIM:300707 |
Limb Body Wall Complex |
|
Diastasis recti, Encephalocele, Ventricular septal defect, Myelomeningocele, Spina bifida, Short ... |
ORPHA:2369 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Umbilical hernia, Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Osteopathia Striata With Cranial Sclerosis |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Joint contracture of the hand, ... |
OMIM:300373 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormal localization of kidney, Overriding aorta, Renal hypoplasia/aplasia, Tetralogy of Fallot |
ORPHA:3186 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Mitral valve prolapse, Atrial septal defect |
OMIM:300986 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... |
ORPHA:99880 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
Opsismodysplasia |
|
Depressed nasal bridge, Long philtrum, Anteverted nares, Short nose |
OMIM:258480 |
Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:603467 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Ascending tubular aorta aneurysm, Hypoplastic right heart, Reduced subcutaneous adipose tissue, C... |
OMIM:617403 |
Parathyroid Carcinoma |
|
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... |
ORPHA:143 |
Noonan Syndrome 1 |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Bruising susceptibility, Coarct... |
OMIM:163950 |
Poems Syndrome |
|
Pericardial effusion, Acrocyanosis |
ORPHA:2905 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, High palate, Long philtrum, Wide nasal bridge, Thick lower lip vermilion, Hip disloca... |
OMIM:619451 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, Hypoplastic left h... |
ORPHA:2308 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin, Erythema |
OMIM:615816 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Double inlet left ventricle, Atrial septal defect |
OMIM:619869 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormality of the kidney, Atrial septal def... |
OMIM:235730 |
Williams Syndrome |
|
Aortic arch aneurysm, Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Abn... |
ORPHA:904 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Branchial anomaly, Bicuspid aortic valve, Aortic aneurysm, Macroglossi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Branchial anomaly, Bicuspid aortic valve, Aortic aneurysm, Macroglossi... |
ORPHA:352665 |
Joubert Syndrome 21 |
|
Renal cyst, Hyperechogenic kidneys |
OMIM:615636 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy |
ORPHA:31826 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... |
ORPHA:1031 |
Zimmermann-Laband Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, Delayed eruption of teeth, ... |
OMIM:135500 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased liver function, Hepatomegaly, Short nose |
OMIM:614863 |
Williams-Beuren Syndrome |
|
Flexion contracture, Coronary artery stenosis, Ventricular septal defect, Premature graying of ha... |
OMIM:194050 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Convex nasal ridge, High palate, Micrognathia, Prominence of the premaxilla, Depressed nasal brid... |
OMIM:614437 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:300968 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:300967 |
Pmm2-Cdg |
|
Retrognathia, Hepatic fibrosis, Mandibular prognathia, Prominent nose, Long philtrum, Wide mouth,... |
ORPHA:79318 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst |
OMIM:193300 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616449 |
Restrictive Dermopathy 1 |
|
Patent ductus arteriosus, Flexion contracture, Prominent superficial blood vessels, Natal tooth, ... |
OMIM:275210 |
Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Subcutaneous lipoma |
ORPHA:79076 |
Townes-Brocks Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urethral valve, Abnormal cardiac septum morpholo... |
ORPHA:857 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Convex nasal ridge, High palate, Wide mouth, Short nose, Depressed nasal bridge |
OMIM:300661 |
Ramos-Arroyo Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:1051 |
Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Vascular dilatation, Multicystic kidney dysplasia, Proteinuria, Renal insuffici... |
ORPHA:2750 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Short nose |
OMIM:614225 |
Witteveen-Kolk Syndrome |
|
Underdeveloped nasal alae, Wide nose, Overhanging nasal tip, High palate, Long philtrum, Wide nas... |
OMIM:613406 |
Orotic Aciduria |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Premature graying of hair, Reduced subcutaneous adipose tissue, Advanc... |
ORPHA:769 |
Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Webbed neck, Ventricular septal defect, Abnormal cardiac septum morphology,... |
ORPHA:209905 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Patent foramen ovale, Abnormal cardiac septum morphology, R... |
ORPHA:3310 |
Bohring-Opitz Syndrome |
|
Flexion contracture, Camptodactyly, Ventricular septal defect, Atrial septal defect |
OMIM:605039 |
Lethal Kniest-Like Dysplasia |
|
Short neck, Atrial septal defect |
ORPHA:2347 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Wide nasal bridge, Hypopigmented skin pat... |
ORPHA:163746 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm, Joint contracture |
OMIM:615349 |
Larsen Syndrome |
|
Spina bifida occulta, Aortic aneurysm, Ventricular septal defect, Atrial septal defect |
OMIM:150250 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia |
OMIM:618278 |
Diamond-Blackfan Anemia 1 |
|
Webbed neck, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Short neck, T... |
OMIM:105650 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Hypoxemia |
OMIM:610913 |
Myasthenia Gravis |
|
Myositis, Acrocyanosis |
ORPHA:589 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Left superior vena cava draining to coronary sinus, Contracture of the proximal interphalangeal j... |
ORPHA:464738 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Vesicoureteral reflux, Multicystic kidney dysplasia, Hydronephrosis, Renal ... |
ORPHA:261537 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Retrognathia, Underdeveloped nasal alae, Cleft soft palate, Widely spaced teeth, Supernumerary to... |
ORPHA:268261 |
Lymphatic Malformation 6 |
|
Webbed neck, Atrial septal defect, Varicose veins, Intestinal lymphangiectasia |
OMIM:616843 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:619184 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Wide nasal bridge, Bifid uvula, Short philtrum, Short nose, Hypoplasia of the... |
ORPHA:500150 |
Blackfan-Diamond Anemia |
|
Abnormality of the thenar eminence, Ventricular septal defect, Webbed neck, Radial artery aplasia... |
ORPHA:124 |
Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Increased erythroc... |
ORPHA:79277 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Macroglossia, Atrial septal defect |
ORPHA:93947 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in childhood, Death in infancy |
OMIM:618426 |
Aymé-Gripp Syndrome |
|
Long philtrum, Oligodontia, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Narrow ... |
ORPHA:1272 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Urinary incontinence, Vesicoureteral reflux, Multicystic kidney dysplas... |
ORPHA:2152 |
Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Flexion contracture, Decreased muscle mas... |
OMIM:154700 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
High palate, Long philtrum, Micrognathia, Macroglossia, Short nose, Thin upper lip vermilion, Dow... |
ORPHA:444077 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Patent ductus arteriosus, Knee flexion contracture, Flexion contracture, Hip contracture, Death i... |
OMIM:300868 |
Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Cutaneous photosensitivity, Flexion contracture, Premature graying of hair,... |
ORPHA:90324 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormality of the pulmonary artery, Pulmonary artery sling, Duplication of renal pelvis, Vesicou... |
ORPHA:261552 |
Restrictive Dermopathy |
|
Patent ductus arteriosus, Camptodactyly of finger, Ascending tubular aorta aneurysm, Webbed neck,... |
ORPHA:1662 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Long philtrum, Microretrognathia, Short nose, Thin upper lip vermilion, Short colume... |
OMIM:601776 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Patent ductus arteriosus, Atrioventricular canal defect, Camptodactyly of finger, Ventricular sep... |
ORPHA:3047 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Choanal stenosis, Wide anterior fontanel, Short nose, Depressed nasal bridge, Narrow mouth, Bulbo... |
ORPHA:95699 |
Fryns Syndrome |
|
Ventricular septal defect, Renal agenesis, Atrial septal defect, Renal cyst, Hypospadias, Uretera... |
OMIM:229850 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Wide nasal bridge, Micrognathia, Short nose, U-Shaped upper lip vermilion, Thin verm... |
OMIM:609945 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ectodermal dysplasia, Ventricular septal defect, Hand muscle atrophy, Spina bifida, Bicuspid aort... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ectodermal dysplasia, Ventricular septal defect, Hand muscle atrophy, Spina bifida, Bicuspid aort... |
ORPHA:363958 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
High palate, Wide nasal bridge, Short nose, Downturned corners of mouth, Broad nasal tip, Antever... |
OMIM:619522 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Dental malocclusion, Mandibular prognathia, Narrow palate, Wide nasal bridge, Exaggerated median ... |
OMIM:312870 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Hypospadias, Multiple renal... |
ORPHA:955 |
Okamoto Syndrome |
|
Underdeveloped nasal alae, Splenomegaly, Wide nasal bridge, Exaggerated median tongue furrow, Sho... |
ORPHA:2729 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Wiedemann-Steiner Syndrome |
|
High palate, Long philtrum, Wide nasal bridge, Short nose, Thin upper lip vermilion |
ORPHA:319182 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Thick vermilion border, Long philtrum, Short nose |
OMIM:252160 |
Townes-Brocks Syndrome 1 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Urethral valve, Ventricular septal defect, R... |
OMIM:107480 |
Chédiak-Higashi Syndrome |
|
Hypopigmentation of the skin, Periodontitis, Iris hypopigmentation, Atrophy of alveolar ridges, L... |
ORPHA:167 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Thick vermilion border, Long philtrum, Short nose |
OMIM:252150 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Micrognathia, Aplasia of the nasal bone, Long philtrum, Short nose |
OMIM:618820 |
Hypermobile Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aorta aneurysm, Acrocyano... |
ORPHA:285 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
Mogs-Cdg |
|
Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect |
ORPHA:79330 |
Alström Syndrome |
|
Gingivitis, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hepatitis, Pancreatitis, Elevated hepat... |
ORPHA:64 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Prominent nasal tip, Smooth philtrum, Short nose |
ORPHA:522077 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb hypertonia, Atrial septal defect |
ORPHA:457351 |
Aicardi Syndrome |
|
Cleft upper lip, Prominence of the premaxilla, Hepatoblastoma, Anteverted nares, Cleft palate |
OMIM:304050 |
D-Bifunctional Protein Deficiency |
|
Renal cyst |
OMIM:261515 |
Costello Syndrome |
|
Lymphangiectasis, Webbed neck, Ventricular septal defect, Mitral valve prolapse, Achilles tendon ... |
OMIM:218040 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Convex nasal ridge, Cleft soft palate, Short nose, Hepatic steatosis, Downturned corners of mouth... |
OMIM:619321 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect |
ORPHA:2728 |
Pearson Syndrome |
|
Glycosuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Proteinuria, Renal insufficien... |
ORPHA:699 |
Aicardi Syndrome |
|
Cleft upper lip, Short philtrum, Prominence of the premaxilla, Hepatoblastoma, Cleft palate |
ORPHA:50 |
Codas Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Delayed eruption ... |
OMIM:600373 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata, Cardiomyopathy |
ORPHA:416 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Ebstein anomaly of the... |
ORPHA:466791 |
Primrose Syndrome |
|
High palate, Wide nasal bridge, Thick lower lip vermilion, Increased size of the mandible, Torus ... |
OMIM:259050 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Webbed neck, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Short ... |
OMIM:607721 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Knee flexion contracture, Reduced subcutaneous adipose tissue, Mitral valve prolapse, Atrial sept... |
OMIM:617402 |
Carpenter Syndrome 2 |
|
Patent ductus arteriosus, Knee flexion contracture, Webbed neck, Broad neck, Diaphragmatic eventr... |
OMIM:614976 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Renal duplication, Multicystic kidney dysplasia, Abnormal cardiac septu... |
ORPHA:709 |
Hamamy Syndrome |
|
Complete atrioventricular canal defect, Atrial septal defect, Low posterior hairline |
OMIM:611174 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Decreased serum iron, Reduced hap... |
ORPHA:447 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Camptodactyly, Atrial septal defect |
ORPHA:261323 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Joint contracture of the hand, Camptodactyly, Atrial septal defect, Si... |
OMIM:309500 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Humeroradial synostosis, Joint contracture of the hand, Small for gestational age, Radioulnar syn... |
OMIM:201750 |
Turnpenny-Fry Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Torticollis, Atrial septal defect, Facial hypoto... |
OMIM:618371 |
Pitt-Hopkins Syndrome |
|
Short neck, Acrocyanosis, Failure of eruption of permanent teeth |
ORPHA:2896 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Dilation of Virchow-Robin spaces, Hydrocephalus, Atrial septal defect, Arthr... |
OMIM:619512 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Camptodactyly of finger, Ve... |
OMIM:607872 |
Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Short nose |
ORPHA:3339 |
Osteogenesis Imperfecta |
|
Aortic root aneurysm, Flexion contracture, Noncommunicating hydrocephalus, Cerebral hemorrhage, D... |
ORPHA:666 |
Spondyloocular Syndrome |
|
Webbed neck, Dysplastic aortic valve, Mitral valve prolapse, Atrial septal defect, Low posterior ... |
OMIM:605822 |
Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Genu valgum, Hypopigmentation of the skin, Weight loss, Retinal pigment e... |
OMIM:219800 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Lower-limb joint contracture, Dilatation of the ventricular cavity, Ventricular septal defect, At... |
ORPHA:459070 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Ventricular septal defect, Natal tooth, Atrial septal defect, Holoprose... |
OMIM:615948 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Natal tooth, Bifid uvula, Microretrognathia, Short nose, Recurrent upper a... |
ORPHA:672 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Hypertrophic cardi... |
ORPHA:116 |
Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Glomerulopathy, Abnormal renal tubule morphology, Hematuria, Proximal renal tubula... |
ORPHA:534 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:438213 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Patent foramen ovale, Ventricular septal defect, Broad neck, Mitral valve prolapse, Hydrocephalus... |
ORPHA:363700 |
Coffin-Siris Syndrome 1 |
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Patent ductus arteriosus, Ventricular septal defect, Delayed eruption of teeth, Cutis marmorata, ... |
OMIM:135900 |
Floating-Harbor Syndrome |
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Atrial septal defect, Coarctation of aorta, Mesocardia, Short neck, Persistent left superior vena... |
OMIM:136140 |
Meier-Gorlin Syndrome 7 |
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Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:617063 |
Microphthalmia, Syndromic 1 |
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Cleft upper lip, Tooth malposition, High palate, Abnormal palmar dermatoglyphics, Joint contractu... |
OMIM:309800 |
Proteus Syndrome |
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Arteriovenous malformation, Renal cyst, Enlarged polycystic ovaries, Long penis |
ORPHA:744 |
Distal Monosomy 6P |
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Atrial septal defect |
ORPHA:96125 |
Immunodeficiency 87 And Autoimmunity |
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Atrioventricular canal defect, Jaundice, Dilated cardiomyopathy, Atrial septal defect, Biventricu... |
OMIM:619573 |
Branchiooculofacial Syndrome |
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Cleft upper lip, Lower lip pit, Micrognathia, Depressed nasal bridge, Broad nasal tip, Cleft of c... |
OMIM:113620 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Cyanosis |
ORPHA:293987 |
Wolf-Hirschhorn Syndrome |
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Abnormal cardiac septum morphology, Atrial septal defect, Congenital diaphragmatic hernia, Low po... |
ORPHA:280 |
Kabuki Syndrome 1 |
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Hydrocephalus, Ventricular septal defect, Atrial septal defect, Coarctation of aorta |
OMIM:147920 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Renal cyst, Hypospadias |
ORPHA:495875 |
Sotos Syndrome |
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Patent ductus arteriosus, Bilateral camptodactyly, Flexion contracture, Hip contracture, Ventricu... |
ORPHA:821 |
Pallister-Killian Syndrome |
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Enamel hypoplasia, Wide anterior fontanel, Wide nasal bridge, Delayed eruption of teeth, Long phi... |
OMIM:601803 |
Bardet-Biedl Syndrome 20 |
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Atrial septal defect |
OMIM:619471 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Perianal erythema, Ectodermal dysplasia, Death in infancy, Atrial septal defect, Neonatal death, ... |
OMIM:308205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Multicystic kidney dysplasia, Micropenis, Hydronephrosis |
OMIM:615287 |
Wolf-Hirschhorn Syndrome |
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Decreased muscle mass, Webbed neck, Ventricular septal defect, Craniofacial asymmetry, Hydrocepha... |
OMIM:194190 |
Lipodystrophy, Familial Partial, Type 7 |
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Recurrent pancreatitis, Narrow mouth, Narrow nasal ridge, Short nose |
OMIM:606721 |
Genitopatellar Syndrome |
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Multicystic kidney dysplasia, Ventricular septal defect, Atrial septal defect, Micropenis, Hydron... |
OMIM:606170 |
Johanson-Blizzard Syndrome |
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Vascular dilatation, Ventricular septal defect, Dilated cardiomyopathy, Atrial septal defect, Sit... |
OMIM:243800 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Short neck, Atrial septal defect |
OMIM:250220 |
Fraser Syndrome |
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Urethral atresia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasia |
ORPHA:2052 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Atrial septal defect |
ORPHA:2526 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Patent ductus arteriosus, Atrial septal defect, Cardiomyopathy |
ORPHA:480880 |
Goodpasture Syndrome |
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Cyanosis |
OMIM:233450 |
Diphallia |
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Abnormal heart morphology, Atrial septal defect |
ORPHA:227 |
Autosomal Recessive Cutis Laxa Type 1 |
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Vesicoureteral reflux, Vascular dilatation, Dilatation of the ventricular cavity, Recurrent urina... |
ORPHA:90349 |