Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Abnormal cil... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Neonat... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 23 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Productive cough, R... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Ciliary Dyskinesia, Primary, 25 |
|
Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Chronic pulmonary obstruction, Rec... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Situs inversus to... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Situs inversus totalis, Cough, Dextrocardia,... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 18 |
|
Rhinitis, Decreased nasal nitric oxide, Abdominal situs ambiguus, Respiratory insufficiency due t... |
OMIM:614874 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Chro... |
OMIM:616481 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Situs inversus totalis, Ciliary dyskinesia |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... |
OMIM:615500 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Heterotaxy, Situs inversus totalis |
OMIM:601086 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Chronic rhi... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal ciliary motility, R... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Rhinorrhea, Cough, D... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Congenitally corrected transposition of the great arteries, Decrea... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Cough,... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Dextrocardia, Sinusitis, Situs inversus tot... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Bronchiectasis, Chronic rhinitis, Rhinorrhea, Dextrocardia, Situs inversus totali... |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Immotile ... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... |
OMIM:612650 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Decreased nasal nitric oxide, Chronic sinusitis, Situs inversus totalis, Cough, Dextrocardia, Abd... |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 5 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Abdominal situs ambiguus, Bronchiectasis, Productive cough, Chronic... |
OMIM:617092 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 46 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Recurrent pneumonia, Reduced ... |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 15 |
|
Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Rhinorrhea, Cough, Situs inversus totalis... |
OMIM:613808 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia, Respiratory distress, Situs inversus totalis, Upper airway obstruction |
OMIM:612776 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis |
OMIM:620032 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Diabetes mellitus, Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Decreased nasal nitric oxide, Polysplenia, Chronic sinusit... |
OMIM:619608 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic rhinit... |
OMIM:612649 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Malformation of the hepatic duct... |
OMIM:615415 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Atrioventricular canal defect, Double outlet right ventricle, Transposition of the grea... |
OMIM:605376 |
Primary Ciliary Dyskinesia |
|
Asplenia, Double outlet right ventricle, Abnormal sperm motility, Ventriculomegaly, Abnormal infe... |
ORPHA:244 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Transposition of the gre... |
OMIM:614779 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen... |
OMIM:208540 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus, Male infertility, Situs inversus totalis, Absent outer dyn... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:610852 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Cough, Ciliary dyskinesia |
OMIM:616726 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypogonadism |
OMIM:615985 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Abnormal respiratory system physiology, Chronic rhinitis, Sinusitis, Ciliary dysk... |
OMIM:242670 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... |
OMIM:614034 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Sideroblastic anemia, Atrial septal defect, Thiamine-re... |
OMIM:249270 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance, Gout, Osteoporosis |
OMIM:610947 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Hydrocepha... |
ORPHA:1666 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura, Short stature |
ORPHA:3204 |
Nephronophthisis 16 |
|
Periportal fibrosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Cholestasis, Aortic val... |
OMIM:615382 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly |
ORPHA:1759 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations |
OMIM:116860 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Spinal dysraphism, Encephalocele, Ventricular ... |
ORPHA:1908 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Choroid plexus cyst, Atrial septal... |
OMIM:267010 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... |
OMIM:604213 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Right atrial ... |
OMIM:306955 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Abnormal bleeding, Bruising susceptibility,... |
OMIM:185070 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Infertility, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, Hepatomega... |
OMIM:602390 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Young Syndrome |
|
Decreased fertility, Abnormality of the pancreas, Obstructive azoospermia |
ORPHA:3471 |
Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus, Venous insufficiency, Polycystic ovaries, Thymus hype... |
ORPHA:2969 |
Gracile Bone Dysplasia |
|
Asplenia, Short stature, Hydrocephalus, Ascites, Hypoplastic spleen, Micropenis |
OMIM:602361 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Sideroblastic anemia, Communicating hydrocephalus, Hypochromic microcytic anem... |
OMIM:616084 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Asplenia, Double outlet right ventricle, Unbalanced atrioventricular ca... |
OMIM:619657 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Hypertension, Thrombocytopenia, Agenesis of corpus callosum |
OMIM:166990 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Heterotaxy, Visceral, 4, Autosomal |
|
Midline liver, Atrioventricular canal defect, Ventricular septal defect, Transposition of the gre... |
OMIM:613751 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia, Primary hypothyroidism |
OMIM:225050 |
Hec Syndrome |
|
Vaginal hydrocele, Endocardial fibroelastosis, Communicating hydrocephalus, Arrhythmia, Cardiomyo... |
ORPHA:2119 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Abnormal cerebellar vermis morphology, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:2703 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, Abnormal fallopian tube morphology... |
ORPHA:99776 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Communicating hydrocephalus, Tetralo... |
ORPHA:2184 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Atrioventricular canal defect, Ventricular septal defect, Cryptorchidism, Abdominal sit... |
OMIM:619123 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Hypoglycorrhachia, Short stature, Jaundice, Communi... |
ORPHA:168577 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Hydrocephalus, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly,... |
OMIM:610333 |
Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... |
OMIM:618734 |
Lissencephaly 4 |
|
Short stature, Cerebellar hypoplasia, Growth delay, Agenesis of corpus callosum, Colpocephaly |
OMIM:614019 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Myelomeningocele, Aplasia of posterior communicating arte... |
OMIM:613686 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Thrombocytopenia, Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Ciliary dyskinesia |
ORPHA:1882 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambigu... |
OMIM:270100 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:615219 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Hypertension, Congestive heart failure, Hepatic steatosis, Oligospermia... |
OMIM:615703 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Ventriculomegaly, Enlarged kidney, Splenic cyst, Communicating hydrocep... |
OMIM:618188 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Brain Small Vessel Disease 2 |
|
Growth delay, Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Ambiguous genitalia, Urethral atresia, Encephalocele, Anencephaly, Hy... |
ORPHA:564 |
Icf Syndrome |
|
Anemia, Short stature, Communicating hydrocephalus, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Afibrinogenemia, Congenital |
|
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... |
OMIM:202400 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1861 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Rectovaginal fistula... |
ORPHA:1780 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Hypoplastic spleen, Respiratory distress, Atrial septal defect |
ORPHA:89844 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Marfanoid Habitus With Situs Inversus |
|
Mitral valve prolapse, Situs inversus totalis, Obstructive sleep apnea, Pulmonic stenosis |
OMIM:609008 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Impotence, Hepatocellular carcinoma, Azoospermia, Elevated hepatic tra... |
OMIM:235200 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of penis, Holoprosencephaly, Situs inversus tota... |
ORPHA:990 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Subdural... |
ORPHA:25 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Meckel Syndrome, Type 1 |
|
Asplenia, Chiari malformation, Ventriculomegaly, Ambiguous genitalia, female, Abnormal cardiac se... |
OMIM:249000 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia |
ORPHA:1538 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Mitral valve prolapse, Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Atrioventricular canal defect, Chiari malformation, Ventriculomegaly, Pulmonary artery ... |
OMIM:265380 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Situs inversus totalis, Respiratory failure |
OMIM:602088 |
Meacham Syndrome |
|
Patent ductus arteriosus, Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal de... |
ORPHA:3097 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, ... |
OMIM:617397 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, Apnea, Res... |
ORPHA:2257 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Stillbirth, Abnormality of... |
ORPHA:85212 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia, Hydrocephalus |
OMIM:209970 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Neonatal death, Hepatomegaly, Colpocephaly |
OMIM:614870 |
Cole-Carpenter Syndrome 1 |
|
Short stature, Hydrocephalus, Communicating hydrocephalus |
OMIM:112240 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Ambiguous genitalia, Abnormal aortic morphology, Encephalocele... |
ORPHA:991 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
Hemophilia A |
|
Intracranial hemorrhage, Splenic rupture, Bleeding with minor or no trauma, Oral cavity bleeding,... |
ORPHA:98878 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Jaundice, Hypertension, Situs inversus totalis, Dextrocardia, Hepatomegaly, Hepatic cysts |
OMIM:613095 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Anterior hypopituitarism, Dextrocardia, Cryptorchidism |
ORPHA:2863 |
Glanzmann Thrombasthenia 1 |
|
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... |
OMIM:273800 |
Mucopolysaccharidosis Type 2 |
|
Abnormal aortic morphology, Abnormal mitral valve morphology, Short stature, Enlarged tonsils, Co... |
ORPHA:580 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Atrioventricular canal defect, Pulmonary valve atresia, Pulmonary a... |
ORPHA:210122 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Secundum atrial septal defect, Situs inversus totalis, Respiratory distress |
OMIM:202650 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Congenital Toxoplasmosis |
|
Anemia, Ventriculomegaly, Ascites, Jaundice, Hydrocephalus, Elevated hepatic transaminase, Lympha... |
ORPHA:858 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Short stature, Decreased testicular si... |
ORPHA:280679 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Growth dela... |
OMIM:615234 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia |
OMIM:123155 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphadenopathy, Abnor... |
ORPHA:3226 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:404 |
Familial Cervical Artery Dissection |
|
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... |
ORPHA:36382 |
Shprintzen-Goldberg Syndrome |
|
Chiari malformation, Ventriculomegaly, Mitral valve prolapse, Communicating hydrocephalus, Abnorm... |
ORPHA:2462 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corpus... |
OMIM:619302 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... |
ORPHA:399805 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Cerebellar hemisphere hypoplasia, Ventriculomegaly, Cerebellar hypoplasia, Decreased testicular s... |
OMIM:615287 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Decreased testic... |
OMIM:300845 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Ventricular septal defect, Atrial septal defect, Dextrocardia, Cryptorchidism, Neutropenia |
OMIM:618067 |
Mirage Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Petechiae, Shawl scrotum, Decreased testicular size... |
OMIM:617053 |
Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Abnormal cerebellum morphology, Cerebral hemorrhage, ... |
ORPHA:97339 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:619702 |
Congenital Factor Xiii Deficiency |
|
Hepatic failure, Myeloid leukemia, Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemo... |
ORPHA:331 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe... |
OMIM:220200 |
Alpha-Mannosidosis, Infantile Form |
|
Chiari malformation, Communicating hydrocephalus, Pancytopenia, Hepatosplenomegaly, Aortic regurg... |
ORPHA:309282 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:475 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia, Hypogonadism |
OMIM:615994 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyp... |
ORPHA:90065 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Congenital Factor Ii Deficiency |
|
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... |
ORPHA:325 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Hepatic failure, Ambiguou... |
ORPHA:261519 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology, Intracranial hemorrhage |
ORPHA:398189 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, Dandy-Walker malfor... |
OMIM:607091 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Hydrocephalus, Elevated hepatic transaminase, Hypertension, Portal fibrosis, Co... |
OMIM:619111 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortical adenoma, Dex... |
ORPHA:403 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Growth delay, Cerebellar atrophy, I... |
ORPHA:488635 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Asplenia, Chronic active hepatitis, Premature ovarian insufficiency, Male hy... |
OMIM:240300 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Adrenal hype... |
ORPHA:251274 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocep... |
ORPHA:2461 |
Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Asplenia, Patent foramen ovale, Cerebellar hypoplasia, Bilateral crypto... |
OMIM:617746 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal ... |
ORPHA:369929 |
Severe Hemophilia A |
|
Anemia, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising ... |
ORPHA:169802 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Cer... |
OMIM:618291 |
Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus |
OMIM:129850 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Abnormal bleeding, Hepatomegaly |
OMIM:300884 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Later... |
OMIM:619534 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Masa Syndrome |
|
Short stature, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:303350 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Short stature, Cerebellar vermis hypoplasia |
ORPHA:1532 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Secondary amenorrhea, Elevated hepatic transam... |
OMIM:613313 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Ventricular septal defect, Short stature, Hy... |
OMIM:615630 |
Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... |
ORPHA:465 |
Primary Angiitis Of The Central Nervous System |
|
Abnormal CSF protein concentration, CSF pleocytosis, Transient ischemic attack, Cerebral vasculit... |
ORPHA:140989 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Epid... |
ORPHA:464329 |
Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium... |
OMIM:601186 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Heart block, Hepatomegaly, Thrombocytopenia, Aplastic anemia, Sple... |
ORPHA:398124 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... |
OMIM:617967 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tract abnormality,... |
ORPHA:79301 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Chiari malformation, Ventriculomegaly, Intracr... |
ORPHA:2481 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic fibrosis, Abnormality of the liver, Abnormal cerebellum morphol... |
ORPHA:1505 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Intracranial hemorrhage, Hy... |
OMIM:614424 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att... |
ORPHA:284388 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Short stature, Mild fetal ventriculomegaly, Commu... |
OMIM:619841 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, ... |
OMIM:614480 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, CSF pleocytosis, Intrauterine growth retardation, Hepatomegaly, Increased CSF i... |
OMIM:615010 |
47,Xyy Syndrome |
|
Macroorchidism, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus, Azoospe... |
ORPHA:8 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Hypoch... |
ORPHA:99147 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Ag... |
OMIM:613153 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... |
OMIM:269200 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus, Tetralogy of Fallot, Cryptorchidism |
ORPHA:250994 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Lymphopenia, Stroke |
OMIM:182410 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... |
ORPHA:231160 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Congestive heart failure, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocy... |
OMIM:269920 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... |
ORPHA:136 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Elevated ci... |
OMIM:620010 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, St... |
ORPHA:449285 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Moderate Hemophilia A |
|
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... |
ORPHA:169805 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Cerebellar hypoplasia, Bicuspid aortic valve, Stroke |
OMIM:300049 |
Hereditary Hemorrhagic Telangiectasia |
|
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary... |
ORPHA:774 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neonatal alloimmune t... |
ORPHA:853 |
Ring Chromosome 21 Syndrome |
|
Short stature, Infertility, Azoospermia, Holoprosencephaly, Abnormal heart morphology, Amenorrhea |
ORPHA:1445 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Pneumothorax, Tru... |
ORPHA:185 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hydrocephalus, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin,... |
ORPHA:163596 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Abnormality of the menstrual cycle, Bruising susceptibility, Epistaxis, Thromb... |
ORPHA:721 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... |
ORPHA:31825 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Cirrhosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, ... |
OMIM:614576 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Cach Syndrome |
|
Cerebellar vermis atrophy, Lateral ventricle dilatation, Secondary amenorrhea, Premature ovarian ... |
ORPHA:135 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... |
OMIM:607685 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Chiari malformation, Hydrocephalus, Aortic aneurysm, Cryptorchidism, Fr... |
ORPHA:261102 |
Dengue Fever |
|
Hypotension, Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Ging... |
ORPHA:99828 |
Congenital Hydrocephalus |
|
Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Cerebral hemorrhage, Cerebellar hypoplasia, Hypertension, Leukocytosis, Ca... |
OMIM:618886 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Emphysema, Dextro... |
ORPHA:289 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Ce... |
OMIM:304100 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Aplas... |
ORPHA:3426 |
Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... |
OMIM:613225 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:614830 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
H Syndrome |
|
Facial telangiectasia, Hypogonadism, Short stature, Decreased testicular size, Enlarged kidney, H... |
ORPHA:168569 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hepatosplenomegaly, Hepatomegaly, Cervical lymphadenopathy, Splenomegaly, ... |
OMIM:602782 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Asplenia, Ventricular septal defect, Interrupted aortic arch, Polysplen... |
OMIM:164280 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Micropenis, Communicating hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia |
ORPHA:457359 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Intracran... |
ORPHA:464321 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Short stature, Foam cells with lamellar inclusion bodies, Bone-ma... |
OMIM:607616 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Growth delay |
OMIM:617244 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventriculomegaly, Ventricular septal defect, Short stature, Hydrocephal... |
OMIM:218350 |
Fried Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology |
ORPHA:85335 |
Pseudoaminopterin Syndrome |
|
Asplenia, Patent foramen ovale, Short stature, Hydrocephalus, Cryptorchidism |
ORPHA:221120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, Abnorma... |
OMIM:613155 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Acholic sto... |
OMIM:619868 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Short stature, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutr... |
OMIM:606054 |
Tetraamelia Syndrome 1 |
|
Asplenia, Urethral atresia, Absent external genitalia, Hydrocephalus, Vaginal atresia, Hypoplasia... |
OMIM:273395 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadism, Hydrocephalus, Hypospadias, Delayed puberty, Hypogonadotropic hypogo... |
ORPHA:141333 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Band Heterotopia |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Galactose Epimerase Deficiency |
|
Growth delay, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Cerebellar vermis atrophy, Hepatic failure, Hepatic bridging fibrosis, Hepatome... |
OMIM:616719 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Urethral atresia, Isomerism, Enlarged kidney, Hydrocephalus, Dextr... |
OMIM:314390 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Factor Vii Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... |
OMIM:227500 |
Acquired Purpura Fulminans |
|
Macular purpura, Hepatic failure, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged ... |
ORPHA:49566 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Hypogonadism, Anisopoikilocytosis, Azoosperm... |
ORPHA:300298 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:616531 |
Griscelli Syndrome |
|
Leukopenia, Encephalocele, Short stature, Hepatitis, Jaundice, Hydrocephalus, Abnormality of neut... |
ORPHA:381 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... |
ORPHA:52901 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Partial a... |
OMIM:220220 |
48,Xxyy Syndrome |
|
Ventriculomegaly, Decreased testicular size, Infertility, Hypoplasia of penis, Azoospermia, Hyper... |
ORPHA:10 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa |
OMIM:620103 |
Hemophilia B |
|
Prolonged bleeding after surgery, Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Dela... |
ORPHA:98879 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Patent ductus arteriosus, Anemia, Ventricular septal defect, Short stature, C... |
ORPHA:163979 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Lateral ventricle dilatation, Short stature,... |
OMIM:618330 |
Alpha-Heavy Chain Disease |
|
Anemia, Premature ovarian insufficiency, Lymphadenopathy, Growth delay, Hepatomegaly, Ascites, Sp... |
ORPHA:100025 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Abnormal pattern of respiration, Abnormality of the hypothalamus-pituitary axis, Dextrocardia |
ORPHA:220493 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Cerebellar dysplasia, Ventricular septal defe... |
OMIM:617751 |
Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Cerebral amyloid angiopathy... |
OMIM:605714 |
B4Galt1-Cdg |
|
Cerebellar hypoplasia, Hydrocephalus, Elevated hepatic transaminase, Abnormal bleeding, Hepatomeg... |
ORPHA:79332 |
Ring Chromosome 7 Syndrome |
|
Abnormal cerebellum morphology, Hypogonadism, Ventriculomegaly, Heart murmur, Short stature, Hydr... |
ORPHA:1449 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Hemolytic anemia, Hypogonadism, Short stature, Mitral valve prolapse, H... |
ORPHA:251066 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Ventriculomegaly, Spontaneous, recurrent epistaxis, Hepatosplenomegaly, Thrombocytopenia, Aortic ... |
ORPHA:2072 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Ventriculomegaly, External genital hypoplasia, Decreased testicul... |
ORPHA:99330 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon, Chiari type I malformation, Ventriculomegaly |
ORPHA:401986 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol ... |
OMIM:615830 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
Renpenning Syndrome |
|
Decreased testicular size, Severe short stature, Hypospadias, Growth delay, Heterotaxy |
ORPHA:3242 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Cerebellar malformation, Ventriculomegaly |
ORPHA:324416 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Johanson-Blizzard Syndrome |
|
Anemia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Diabetes mellitus, Dextr... |
ORPHA:2315 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
Meacham Syndrome |
|
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Bicuspid aortic v... |
OMIM:608978 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Polysplen... |
OMIM:614294 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding, Menometrorrhagia |
ORPHA:98880 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Complete atrioventricular canal de... |
OMIM:264480 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Supernumerary nipple, Cryptorchidism |
OMIM:618929 |
Progressive Familial Intrahepatic Cholestasis |
|
Short stature, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Elevated circulating alanine aminotransferase concentration, ... |
OMIM:608836 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Hydrocephalus, Congestive heart failure |
OMIM:300886 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation, Premature ovarian insufficiency |
OMIM:615889 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Dense calcifications in the cerebellar dentate nucleus, Cerebral hemorrhage |
ORPHA:542310 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar dysplasia, Abnormal cerebellum morphology, Ventriculomegaly, Hypoplasia of the pons, C... |
ORPHA:101070 |
Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... |
OMIM:227600 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteroni... |
ORPHA:231580 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... |
ORPHA:99827 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Abnormality of the pancreas, Sp... |
ORPHA:1926 |
Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... |
ORPHA:53719 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocyt... |
OMIM:615631 |
Ataxia-Pancytopenia Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Acute myelomonocytic leukemia, Abnormal macrophage morpholo... |
ORPHA:2585 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Bile duct proliferatio... |
OMIM:607361 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... |
ORPHA:699 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Petechiae, Hepatocellular carcinoma, Elevated hepatic ... |
OMIM:619463 |
Alexander Disease |
|
Abnormal dentate nucleus morphology, Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia |
ORPHA:401815 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus |
ORPHA:2578 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Car... |
OMIM:251000 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Elevated hepatic transaminase, Generalized lymphadenopathy, Hepatosp... |
ORPHA:3260 |
Distal Trisomy 5Q |
|
Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular ... |
OMIM:606003 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus ... |
ORPHA:1528 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... |
OMIM:616828 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Bicornuate uterus, Cerebellar cyst, Azoospermia, Hypoplasia of the uterus |
OMIM:601076 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:618266 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Decreased circulating cortisol level, Increased circulating ACTH level,... |
ORPHA:90790 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Prolonged bleeding time, Hematemesis, Thrombocyto... |
ORPHA:906 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal cerebellum morphology, V... |
ORPHA:370959 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morph... |
ORPHA:93476 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus, Cholestasis, Portal fibrosis |
OMIM:615862 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Short stature, Lateral ventricle dilatation |
OMIM:619420 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Lateral ventricle dilatation, Cryptorchidism |
OMIM:616816 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventriculomegaly, Petechiae, Cerebellar hypoplasi... |
OMIM:251290 |
Triploidy |
|
Meningocele, Ambiguous genitalia, Abnormality of the pancreas, Abnormal cardiac septum morphology... |
ORPHA:3376 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:613677 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Ventricular septal defect, Cerebellar cyst, Cereb... |
ORPHA:79243 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Multiple Sulfatase Deficiency |
|
Ventriculomegaly, Short stature, Hydrocephalus, Hepatomegaly, Increased CSF protein concentration... |
OMIM:272200 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Pancytopenia, Atrial septal defect, Dextrocardia, Hepatomegaly, Thr... |
OMIM:277380 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... |
OMIM:619517 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le... |
OMIM:615954 |
Hypophosphatasia, Infantile |
|
Disproportionate short-limb short stature, Anemia, Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated hepatic transaminase, Dilated cardiomyopath... |
ORPHA:99901 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Arteriosclerosis, Splenomegaly |
ORPHA:75234 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar hemisphere hypoplasia, Hydrocephalus, Cerebellar vermis hypop... |
OMIM:615191 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Chylopericardium, Congestive heart failure, Growth... |
ORPHA:2414 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventriculomegaly, Hypogonadism, Cerebellar hypoplasia, Ventricular sept... |
OMIM:300514 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Short stature, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Primary amenorrhea, Splenomegaly |
OMIM:612526 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Alg2-Cdg |
|
Hepatomegaly, Lateral ventricle dilatation |
ORPHA:79326 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons |
OMIM:615181 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Short stature, Lymphadenopathy, Hepatomegaly, Intrauterine gro... |
OMIM:609981 |
Cerebral Visual Impairment |
|
Hydrocephalus, Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Marden-Walker Syndrome |
|
Dextrocardia, Cryptorchidism |
OMIM:248700 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly |
OMIM:619164 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Lateral ventricle dilatation, Pulmonary artery sling, Septate vagina, Cryptorchidism, C... |
ORPHA:261537 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Leukemia, Ventriculomegaly, Ventricular septal defect |
OMIM:602501 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly |
ORPHA:250972 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Atrial septal defect, Abnormal aortic valve morphology |
ORPHA:261197 |
48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
Aspergillosis |
|
Hepatitis, Intracranial hemorrhage, Eosinophilia, Stroke, Neutropenia |
ORPHA:1163 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... |
ORPHA:158057 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Azoospermia, Male hypo... |
OMIM:228300 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Abnormal heart morpholog... |
ORPHA:96092 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Proportionate short stature, Hydrocephalus |
ORPHA:759 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Hy... |
OMIM:220210 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Hydrocephalus, Short stature |
ORPHA:1516 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistax... |
OMIM:612840 |
Glycogen Storage Disease Ixb |
|
Short stature, Increased hepatic glycogen content, Growth delay, Hepatomegaly, Splenomegaly |
OMIM:261750 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Ventriculomegaly, Hydrocephalus, Hypertension, Pancytopenia, Macrocytic... |
ORPHA:2169 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ar... |
ORPHA:624 |
Cardiac Diverticulum |
|
Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe... |
ORPHA:1686 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Lateral ventricle dilatation |
ORPHA:77299 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Chiari malformation, Ventricular septal defect, Short stature, Atrial septa... |
OMIM:609053 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ... |
ORPHA:231401 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus, Hypoplastic female external genitalia, Cryptorchidism, Agenesis ... |
OMIM:618577 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Abnormal bleeding, Elevated hepatic transaminase, Bruising susceptibility, E... |
OMIM:277450 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Lateral ventricle dilatation, Pulmonary artery sling, Septate vagina, Ventricular septa... |
ORPHA:261552 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Double outlet right ventr... |
ORPHA:99125 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia, Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperp... |
ORPHA:96181 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:614120 |
Gaucher Disease, Type Iii |
|
Short stature, Pancytopenia, Vascular calcification, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... |
OMIM:613812 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:618302 |
Autoerythrocyte Sensitization Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Autoimmune thrombocytopenia, Abnormal erythrocy... |
ORPHA:324636 |
49,Xxxxy Syndrome |
|
Pulmonary embolism, Hypogonadism, Short stature, Decreased testicular size, Arrhinencephaly, Infe... |
ORPHA:96264 |
Fanconi Anemia |
|
Ventriculomegaly, Abnormal testis morphology, Abnormal cardiac septum morphology, Abnormal caroti... |
ORPHA:84 |
Menkes Disease |
|
Intracranial hemorrhage, Short stature, Intrauterine growth retardation |
OMIM:309400 |
Mowat-Wilson Syndrome |
|
Asplenia, Ventriculomegaly, Abnormal cardiac septum morphology, Pulmonary artery sling, Septate v... |
ORPHA:2152 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I... |
OMIM:314050 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilata... |
ORPHA:300573 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Encephalocele, Vascular dilatation, Intrahepatic bile duct dilatatio... |
OMIM:216360 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Hypoplastic nipples |
ORPHA:2437 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation |
ORPHA:272 |
3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Atrioventricular canal defect, Ventriculomegaly, Ventricula... |
ORPHA:7 |
Temple Syndrome |
|
Precocious puberty, Short stature, Hydrocephalus, Cryptorchidism, Postnatal growth retardation |
ORPHA:254516 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Hepatocellular carcinoma, Ab... |
ORPHA:370 |
Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypospadias, Abnormal heart morphology, Cryptorchidism, Agenesis... |
OMIM:175700 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si... |
ORPHA:432 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Hepatic failure, Short stature, Abnormal... |
OMIM:614886 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Cerebral vasculitis, Growth delay, Eosinophilia, Decreased pro... |
OMIM:243700 |
Tempi Syndrome |
|
Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia, Ascites |
ORPHA:284227 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Cerebellar ... |
OMIM:607596 |
Amyloidosis, Familial Visceral |
|
Hypertension, Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar vermis atrophy, Intrahepatic biliary dysgenesis, Hepatosplenomegaly, Hepatomegaly, Spl... |
OMIM:614866 |
Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, H... |
OMIM:232300 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Medulloblastoma |
|
Cerebellar hemorrhage, Cerebellar cyst, Hydrocephalus, Elevated hepatic transaminase, Cerebellar ... |
ORPHA:616 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
Estrogen Resistance |
|
Osteopenia, Hyperinsulinemia, Glucose intolerance, Impaired glucose tolerance |
OMIM:615363 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Abnormal cardiac septum morphology, Abnormality of the gallbladder, Hyd... |
ORPHA:2075 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Cherry red s... |
OMIM:257200 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy... |
ORPHA:848 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Jaundice, Hydrocephalu... |
ORPHA:79282 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Mitral stenosis, Hydrocephalus, Calcification of the aorta, Pancytope... |
OMIM:231005 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Agenesis of cerebellar vermis, Dandy-Walker malformation, Cerebe... |
ORPHA:163961 |
Cog5-Cdg |
|
Lateral ventricle dilatation, Short stature, Elevated hepatic transaminase, Intrauterine growth r... |
ORPHA:263487 |
Isolated Cleft Lip |
|
Situs inversus totalis |
ORPHA:199302 |
Joubert Syndrome With Hepatic Defect |
|
Intrahepatic biliary atresia, Aplasia/Hypoplasia of the cerebellum, Cirrhosis, Neoplasm of the li... |
ORPHA:1454 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Aicardi-Goutieres Syndrome 1 |
|
Cardiomyopathy, Prolonged neonatal jaundice, Petechiae, Short stature, Vasculitis, Elevated hepat... |
OMIM:225750 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
Extracranial Carotid Artery Aneurysm |
|
Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hypertension, To... |
ORPHA:494424 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P... |
ORPHA:90795 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Dilation of Virchow-Robin spaces, Agenesis of corpus callosum, Colpoc... |
OMIM:619955 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:613443 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Short stature, Jaundice, Epistaxis, Hepatomegaly, Cholelithiasis, Intrahepatic cholest... |
OMIM:211600 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Anemia, Hemolytic anemia, Lateral ventricle dilatation, Pericardial effusion, E... |
OMIM:619487 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short stature, Hydrocephalus, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis |
ORPHA:2701 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Hepatic failure, Ventriculomegaly, Ventricular septal defect,... |
ORPHA:1655 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Primary amenorrhea |
OMIM:229070 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Reduced number of intrahepatic bile ducts, Abnormal heart morphology, Growt... |
ORPHA:79284 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Encephalocele, Ventriculomegaly, Short stature, Hydrocephalus, Atrial s... |
ORPHA:93274 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Primary Myelofibrosis |
|
Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Abnormal bleeding, Pancytopenia, Hepato... |
ORPHA:824 |
Whipple Disease |
|
Hypotension, Anemia, Hydrocephalus, Erectile dysfunction, Pericarditis, Myocardial infarction, He... |
ORPHA:3452 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Cerebellar hypoplasia |
OMIM:618731 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Arteriovenous malformation, Cerebral arteriovenous malformatio... |
ORPHA:137667 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Pulmonary arterial hypertension, Cirrhosis, Abnormality of the liver, Decreased l... |
ORPHA:231222 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mitral valve prol... |
OMIM:177850 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dilatation, Cerebellar hyp... |
ORPHA:3078 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Hydranenceph... |
OMIM:225790 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage, Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, H... |
OMIM:613154 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Chiari malformation, Hydrocephalus, Hypospadias, Cryptorchidism, Microp... |
ORPHA:171839 |
Johanson-Blizzard Syndrome |
|
Hepatic failure, Vascular dilatation, Ventricular septal defect, Short stature, Urethrovaginal fi... |
OMIM:243800 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Splenomegaly, Secondary amenorrhea, Atherosclerosis, Oligomenorrhea, Congestive heart ... |
ORPHA:79083 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus, Abdominal situs inversus |
OMIM:618699 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Priapism, Jaundice, Splenic infarct... |
OMIM:603903 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, An... |
ORPHA:1335 |
Wilson Disease |
|
Cirrhosis, Anemia, Hepatitis, Jaundice, Abnormality of the menstrual cycle, Elevated hepatic tran... |
ORPHA:905 |
Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Short stature, Hydrocephalus, Cryptorchidism, Cerebel... |
OMIM:609757 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Postnatal growth retardation, Supraventricular arrhythmia, Syncope... |
ORPHA:75249 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Hypoplasia of the ... |
OMIM:618736 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hyperspleni... |
ORPHA:77259 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
Infantile Liver Failure Syndrome 3 |
|
Short stature, Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steato... |
OMIM:618641 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Encephalocele, Arteriovenous malformation... |
ORPHA:974 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Primary amenorrhea, Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventriculomegaly, Ventri... |
OMIM:619418 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Persistent fetal circulation, Lateral ventricle dilatation, Mitral valv... |
OMIM:612863 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Adrenal gland agenesis |
OMIM:611812 |
Ring Chromosome 22 Syndrome |
|
Azoospermia, Growth delay, Agenesis of corpus callosum |
ORPHA:1446 |
Pallister-Hall-Like Syndrome |
|
Short stature, Hydrocephalus, Chiari type I malformation, Occipital encephalocele, Micropenis |
OMIM:241800 |
Superficial Siderosis |
|
Enlarged sylvian cistern, Abnormal vertebral artery morphology, Abnormal cerebellar vermis morpho... |
ORPHA:247245 |
Parkes Weber Syndrome |
|
Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat... |
ORPHA:90307 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Abnormal bleeding, Hepatomegaly, Mediastinal lymphadenopathy, ... |
ORPHA:158029 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Short stature, Growth delay, Hepatomegaly, Intrauterine growth retardation, Cerebellar atrophy, S... |
OMIM:618541 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ambiguous genitalia, Ventriculomegaly, Short stature, Cerebellar hypoplasia, Bifid scrotum, Pulmo... |
OMIM:257300 |
Arachnoid Cyst |
|
Encephalocele, Chiari malformation, Abnormal cerebellum morphology, Hydrocephalus, Holoprosenceph... |
ORPHA:2356 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Ventriculomegaly, Cerebral ischemia, A... |
ORPHA:60040 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Atrial septal defect, Disproportionate... |
ORPHA:2655 |
Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Retinal hemorrhage, Dense calcifications in the cerebellar dentate nucleus,... |
ORPHA:90324 |
Joubert Syndrome 3 |
|
Lateral ventricle dilatation, Elongated superior cerebellar peduncle, Atrial septal defect, Enlar... |
OMIM:608629 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Ventriculomegaly, Bicuspid aortic valve, Left ventricular hypertrophy,... |
OMIM:618619 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Petechiae, Abnormal EKG, Hydrocephalus, Hepatosplenomegaly, Abnormal heart morpho... |
ORPHA:93400 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Congestive heart fa... |
ORPHA:363618 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus |
ORPHA:363717 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypoplasia of penis, Holopros... |
ORPHA:77298 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hepatic failure, Ventriculomegaly, Short stature, Extramedullary hematopoiesis, Hydroceph... |
OMIM:259720 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Short stature, Hepatocellular carcinoma, Intrahepatic cholestas... |
OMIM:601847 |
Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... |
ORPHA:2177 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Mucopolysaccharidosis, Type Ii |
|
Splenomegaly, Short stature, Hydrocephalus, Congestive heart failure, Hepatosplenomegaly, Severe ... |
OMIM:309900 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Cerebellar atrophy... |
OMIM:616602 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:614837 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Petechiae, Coombs-positive hemolyt... |
OMIM:603909 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Hydrocephalus, Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:614219 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,... |
OMIM:612885 |
Polycythemia Vera |
|
Pulmonary embolism, Intermittent claudication, Angina pectoris, Bruising susceptibility, Hyperten... |
ORPHA:729 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Chiari malformation, Ventriculomegaly, Hypogonadism, Truncus arteriosus... |
ORPHA:96170 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Elevated jugular venous pressure, Infertility, Cholangiocarcinoma, Hepatocellular carc... |
ORPHA:465508 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Petechiae, Reticulocytosis, Growth delay, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Tach... |
ORPHA:1772 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Cirrhosis, Anemia, Short stature, Oligomenorrhea, Abnor... |
ORPHA:264580 |
Desmosterolosis |
|
Patent ductus arteriosus, Ambiguous genitalia, Ventriculomegaly, Hydrocephalus, Severe short stat... |
ORPHA:35107 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Short stature, Decreased testicular size, Phimosis, Atrial septal defe... |
OMIM:309500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Hepatic failure, Ventriculomegaly, Hydrocephalus, Abnormal myocardium morphology,... |
ORPHA:228308 |
Hemangioblastoma |
|
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis... |
OMIM:207950 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
ORPHA:284417 |
Fish-Eye Disease |
|
Atherosclerosis, Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Nasu-Hakola Disease |
|
Hydrocephalus, Acute leukemia, Ventriculomegaly |
ORPHA:2770 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Azoospermia, Oligospermia, Delayed puberty, Cryptorchidism, Hypogonadotropic ... |
OMIM:300200 |
Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Subependymal cysts, Decreased CSF glutamine concentration, Neonatal... |
OMIM:610015 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Petechiae, Purpura, Viral hepatitis, Mediastinal lymphadenopathy, Hepat... |
ORPHA:91138 |
Bresek Syndrome |
|
Decreased testicular size, Hydrocephalus, Growth delay, Cryptorchidism, Neonatal death, Intrauter... |
ORPHA:85284 |
Spondyloenchondrodysplasia |
|
Ventriculomegaly, Short stature, Hepatitis, Abnormal lateral ventricle morphology, Raynaud phenom... |
ORPHA:1855 |
Essential Thrombocythemia |
|
Abnormal cerebral vascular morphology, Transient ischemic attack, Myocardial infarction, Abnormal... |
ORPHA:3318 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Classic Homocystinuria |
|
Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Arteriovenous malformation, Eleva... |
ORPHA:394 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegal... |
OMIM:616589 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Petechiae, CSF pleocytosis, Jaundice, Elevated hepatic transaminase, Purpura, Bruising su... |
ORPHA:540 |
Wolman Disease |
|
Hepatic failure, Anemia, Bone-marrow foam cells, Hepatomegaly, Growth delay, Ascites, Splenomegaly |
ORPHA:75233 |
Bloom Syndrome |
|
Decreased fertility in females, Azoospermia, Intrauterine growth retardation, Facial telangiectas... |
OMIM:210900 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the liver, Short stature, Hydrocephalus, Abnormality of the spleen, Abnormal morph... |
ORPHA:1834 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Anemia, Petechiae, Elevated hepatic transaminase, Intracranial hemorrhage, Internal ... |
ORPHA:340 |
48,Xxxy Syndrome |
|
Pulmonary embolism, Hypogonadism, Decreased testicular size, Infertility, Hypoplasia of penis, Az... |
ORPHA:96263 |
Glycogen Storage Disease Ixa1 |
|
Growth delay, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:306000 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Trisomy 1Q |
|
Patent ductus arteriosus, Ambiguous genitalia, Ventriculomegaly, Ventricular septal defect, Cereb... |
ORPHA:261344 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Angina pectoris, Congestive heart failure, Hypertension, Hepatic steatos... |
ORPHA:90970 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... |
ORPHA:137675 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Hypoplasia of the pons, Decreased liver function, Dandy-Walker malf... |
OMIM:618606 |
Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Gastrointestinal... |
ORPHA:131 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... |
ORPHA:251510 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Short stature, Postnat... |
OMIM:620113 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Rhizomelic arm shortening, Dilated third ventricle, Rhizomelic leg shortening, Abnor... |
ORPHA:397715 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus, Growth delay |
ORPHA:2086 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatic failure, Ventriculomegaly, Petechiae, Ascites, Purpura, Hepatosplenomegaly, Hepat... |
OMIM:608013 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Short statur... |
OMIM:613673 |
Slc35A2-Cdg |
|
Precocious puberty, Lateral ventricle dilatation, Short stature, Elevated hepatic transaminase, A... |
ORPHA:356961 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Autoimmune hypoparathyroidism, Non-caseating epithelioid ... |
ORPHA:227982 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Lymphopenia, ... |
ORPHA:2306 |
Multiple Sulfatase Deficiency |
|
Short stature, Hydrocephalus, Splenomegaly, Hepatomegaly |
ORPHA:585 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Griscelli Syndrome Type 2 |
|
Petechiae, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, ... |
ORPHA:79477 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Hydrocephalus, Dandy-Walker malformation, Atrial septal defect, Aortic valve steno... |
ORPHA:459061 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr... |
ORPHA:95699 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Carpenter Syndrome 2 |
|
Patent ductus arteriosus, Shawl scrotum, Bilateral cryptorchidism, Atrial septal defect, Situs in... |
OMIM:614976 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:109120 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Intrauterine growth retardation, Erythroid hyperplasia, Reticulocytosis, Cholecystitis,... |
OMIM:266200 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... |
ORPHA:227990 |
Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Impotence, Enlarged polycystic ovaries, Decreased female libido, In... |
ORPHA:91348 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent... |
OMIM:610655 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventriculomegaly, Aqueductal stenosis, Ventr... |
OMIM:619895 |
Bloom Syndrome |
|
Acute myeloid leukemia, Telangiectasia, Abnormal proportion of CD8-positive T cells, Premature ov... |
ORPHA:125 |
Temple Syndrome |
|
Precocious puberty, Short stature, Decreased testicular size, Hydrocephalus, Cryptorchidism, Intr... |
OMIM:616222 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis |
OMIM:614897 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Abnormal internal genitalia, Hepatic fibrosis, Anencephaly, Hydrocephalus, Bi... |
OMIM:612284 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation |
ORPHA:93262 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi... |
OMIM:230800 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral amyloid angiopathy, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocyt... |
OMIM:259710 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Lateral ventricle dilatation, Hydrocephalus, Growth delay, Hepatomegaly, Splenomegaly |
OMIM:612301 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Short stature, Hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Postna... |
OMIM:253220 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:2182 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Rhizomelia, Lateral ventricle dilatation, Short stature, Left ventricular hypertrophy, Hy... |
OMIM:611209 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Short stature, Subcutaneous hemorrhage, Arteriovenous malformation, Aortic aneury... |
ORPHA:109 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypertrophic cardiomyopathy, ... |
OMIM:612938 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepatocellular carcin... |
ORPHA:231226 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hydrocephalus, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy |
OMIM:600721 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Short stature, Hydrocephalus, Intrauterine growth retardation, Colpocephaly |
OMIM:619833 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Abnormality of the abdominal organs, Bilateral cryptorchidism, Hyd... |
ORPHA:2409 |
Stromme Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Accessory spleen, Stillbirth, Agenesis of corpus callosum, ... |
OMIM:243605 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Pulmon... |
OMIM:609029 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Ventriculomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary... |
OMIM:235255 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Knobloch Syndrome |
|
Dextrocardia, Lymphangioma |
ORPHA:1571 |
Hurler Syndrome |
|
Cardiomyopathy, Short stature, Hydrocephalus, Abnormal heart valve morphology, Angina pectoris, H... |
ORPHA:93473 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Hepatic failure, Hydrocephalus, Hepatic calcification, Hepatomegaly, Arrhythmia, ... |
ORPHA:157 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Colpocephaly, Ventricular septal defect, Short stature, Agenesis of ... |
OMIM:309801 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Short stature, Abnormal cardiac septum morphology, Hydrocephalus, Growth delay,... |
ORPHA:238769 |
Vacterl Association With Hydrocephalus |
|
Abnormal heart morphology, Hydrocephalus, Aqueductal stenosis, Stillbirth |
OMIM:276950 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Cerebellar hypoplasia, Hydrocephalus, Dan... |
OMIM:613001 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Hydrocephalus, Short stature |
ORPHA:53 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
Short-Rib Thoracic Dysplasia 12 |
|
Patent ductus arteriosus, Patent foramen ovale, Ambiguous genitalia, Periportal fibrosis, Ventric... |
OMIM:269860 |
Hurler Syndrome |
|
Cardiomyopathy, Short stature, Hydrocephalus, Enlarged tonsils, Hepatosplenomegaly, Aortic regurg... |
OMIM:607014 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Ventriculomegaly, Ventricular septal defect, Spina bifida, Bicuspid aortic va... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Ventriculomegaly, Ventricular septal defect, Spina bifida, Bicuspid aortic va... |
ORPHA:363958 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Cirrhosis, Anemia, Short stature, Oligomenorrhea, Hepat... |
ORPHA:79240 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Cerebellar hypoplasia, Hydrocephalus, Intrauterine growth retardation |
ORPHA:163966 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Growth delay, Lateral ventricle dilatation |
ORPHA:208447 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Testicular atrophy, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:308700 |
Beta-Thalassemia Major |
|
Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, High-output congestive ... |
ORPHA:231214 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, C... |
OMIM:615895 |
Acys Amyloidosis |
|
Cerebral amyloid angiopathy, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Coccidioidomycosis |
|
Hypoglycorrhachia, Abnormality of the liver, Increased CSF protein concentration, Cerebral ischem... |
ORPHA:228123 |
Menkes Disease |
|
Vascular dilatation, Abnormal carotid artery morphology, Intracranial hemorrhage, Venous insuffic... |
ORPHA:565 |
Metatropic Dysplasia |
|
Severe short stature, Hydrocephalus |
ORPHA:2635 |
Hydrocephalus, Congenital, X-Linked |
|
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum |
OMIM:307000 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Intracranial hemorrhage |
ORPHA:91350 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine... |
ORPHA:53035 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Mild postnatal growth retardation, Erythroid hyperplasia, Reticulocytosis, Macr... |
OMIM:224120 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Vascular ring, Ventricular septal defect, Hydrocephalus, Atrial septal defect, ... |
OMIM:603387 |
Alkuraya-Kucinskas Syndrome |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Pericardial effusion, Hydrocephalu... |
OMIM:617822 |
Crouzon Syndrome |
|
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia |
ORPHA:207 |
Hellp Syndrome |
|
Hypotension, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Elevated h... |
ORPHA:244242 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cardiomyopathy, Ventriculomegaly, Lateral ventricle dilatation, Cerebel... |
ORPHA:572798 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, Cryptorchidi... |
ORPHA:565624 |
Autoimmune Hepatitis |
|
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steato... |
ORPHA:2137 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Lateral ventricle dilatation |
OMIM:615716 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Intrauterine growth retardation |
ORPHA:1914 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Dilated cardiomyopathy, Atr... |
OMIM:253800 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations |
ORPHA:231625 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Increased CSF lactate, Intraventricular hemorrhage, Neonatal death, I... |
OMIM:619055 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrh... |
OMIM:139090 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Ventriculomegaly, Hydr... |
ORPHA:59315 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Glutaric Acidemia I |
|
Hydrocephalus, Hepatomegaly, Lateral ventricle dilatation |
OMIM:231670 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Monosomy 18Q |
|
Patent ductus arteriosus, Absence of the pulmonary valve, Short stature, Cerebellar hypoplasia, L... |
ORPHA:1600 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:3035 |
Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Hepatic steatosis, Hypertrophic cardiomyopathy, Holopros... |
OMIM:270400 |
X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Petechiae, Bruising susceptibility, Ecchymosis, E... |
OMIM:153670 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus, Cr... |
ORPHA:1647 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Crypto... |
ORPHA:261250 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:616362 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Hydroc... |
OMIM:612582 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Mosaic Trisomy 1 |
|
Penile hypospadias, Ventricular septal defect, Lateral ventricle dilatation, Cerebellar hypoplasi... |
ORPHA:1692 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation, Short stature, Mitral valve prolapse, Lymphopenia, Bruising suscept... |
OMIM:619745 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Short stature, Dextrotransposition of the great arteries, Ventricular septal defect, Lateral vent... |
OMIM:619995 |
Dpagt1-Cdg |
|
Anemia, Abnormal cerebellum morphology, Cerebellar hypoplasia, Elevated hepatic transaminase, Int... |
ORPHA:86309 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Short stature, Hydrocephalus, Abnormal aortic valve morphology, Congestive heart fa... |
ORPHA:579 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Patent ductus arteriosus, Chiari malformation, Rhizomelia, Hydrocephalus, Bruising susceptibility... |
OMIM:618162 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Agenesis of corpu... |
ORPHA:899 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Anemia, Reticulocytopenia, Short stature, Hydrocephalus, Pancytopenia, ... |
OMIM:227646 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Hy... |
OMIM:613150 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Pontocerebellar atrophy, Lateral ventricle dilatation |
OMIM:617854 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Q Fever |
|
Endocarditis, Anemia, Abnormality of the liver, Hepatitis, Pericardial effusion, Elevated hepatic... |
ORPHA:781 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Osteogenesis Imperfecta |
|
Aortic root aneurysm, Noncommunicating hydrocephalus, Ventriculomegaly, Cerebral hemorrhage, Rhiz... |
ORPHA:666 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,... |
OMIM:235555 |
Khan-Khan-Katsanis Syndrome |
|
Patent foramen ovale, Anemia, Bilateral superior vena cava with no bridging vein, Ventriculomegal... |
OMIM:618460 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... |
ORPHA:90068 |
Trisomy 17P |
|
Patent ductus arteriosus, Short stature, Hydrocephalus, Hypoplasia of penis, Hypoplastic left hea... |
ORPHA:261290 |
Familial Glucocorticoid Deficiency |
|
Hypotension, Leydig cell neoplasia, Precocious puberty, Testicular adrenal rest tumor, Azoospermi... |
ORPHA:361 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation |
OMIM:616355 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Elevated hepatic transaminase, Dandy-Walker malformation, Cryptorchidism |
OMIM:310400 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... |
ORPHA:288 |
Acute Liver Failure |
|
Hypotension, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic tra... |
ORPHA:90062 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus |
OMIM:613776 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Heart murmur, Cerebellar hypoplasia, Hydrocephalus, Congestive h... |
ORPHA:3309 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hypertension, Hematemes... |
OMIM:263200 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Short stature, Hydrocephalus, Abnormality of neutrophils, H... |
ORPHA:2720 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Short stature, Bicuspid aortic valve, Ao... |
ORPHA:536545 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Intrauterine growth retardation, Short stature |
OMIM:300863 |
Gaucher Disease |
|
Abnormal pericardium morphology, Mitral valve calcification, Cirrhosis, Anemia, Cherry red spot o... |
ORPHA:355 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Pulmonary artery stenosis... |
OMIM:301068 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Hypersplenism, Pulmonic sten... |
OMIM:616028 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Hydrocephalus, Cryptor... |
OMIM:619951 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Agenesis of corpus callosum... |
ORPHA:1136 |
Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Abnormal cerebellum morphology, Ventriculomegaly, Short stature,... |
ORPHA:93932 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Pulmonary arterial hypertension, Rhizomelia, Hydrocephalus, Congestive he... |
OMIM:616482 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Chiari type ... |
OMIM:618476 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris... |
ORPHA:740 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Atrial septal defect, Hyposegmentation of neutrophil nuclei, Lateral ventri... |
OMIM:620075 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Bruising susceptibility, Prominent superficial veins, Intrauterine growth retardat... |
OMIM:612940 |
Mucopolysaccharidosis, Type Vi |
|
Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonary insufficiency, Short stature,... |
OMIM:253200 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Hydrocephalus, Hydrocele testis, Atrial septal defect, Hypoplastic aort... |
ORPHA:314588 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ambiguous genitalia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the po... |
OMIM:614969 |
Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Complete atrioventricular canal defect, Accessory spleen, Ventricular s... |
OMIM:236680 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Secundum atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Thromb... |
OMIM:612541 |
Hydrolethalus |
|
Abnormal fallopian tube morphology, Anencephaly, Arrhinencephaly, Hydrocephalus, Cryptorchidism, ... |
ORPHA:2189 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Hypothyroidism, Ventricular septal defect, Adrenal insufficiency, ... |
OMIM:300166 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation, Short stature, ... |
OMIM:619575 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Short stature |
OMIM:618480 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:615249 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... |
ORPHA:30391 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Ventriculomegaly, Short stature, Mitral stenosis, Coarctation of aorta,... |
OMIM:617260 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Crypt... |
ORPHA:1812 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Hydrocephalus, Portal fibrosis, Chole... |
OMIM:619377 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Patent foramen ovale, Patent ductus arterios... |
ORPHA:505248 |
Tetrasomy 9P |
|
Pulmonary arterial hypertension, Absent gallbladder, Biliary atresia, Patent foramen ovale, Abnor... |
ORPHA:3310 |
Halperin-Birk Syndrome |
|
Ventriculomegaly, Perimembranous ventricular septal defect, Semilobar holoprosencephaly, Intraute... |
OMIM:618651 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, Hydrocephalus, ST segment d... |
OMIM:261740 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat... |
OMIM:300972 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Atrial septal defect, Lethal short-lim... |
ORPHA:1860 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Lateral ventricle dilatation, Cerebellar hypoplasia, Abnormal cere... |
ORPHA:300570 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of t... |
ORPHA:84064 |
Meningioma |
|
Abnormal cerebellum morphology, Impotence, Cerebral hemorrhage, Hydrocephalus, Syncope, Hypogonad... |
ORPHA:2495 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,... |
ORPHA:99889 |
Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Ambiguous genitalia, Ventriculomegaly, Sex reversal, Microp... |
OMIM:612651 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation |
OMIM:256850 |
Lateral Meningocele Syndrome |
|
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Short stature, Bicuspid aortic ... |
OMIM:130720 |
Poland Syndrome |
|
Abnormality of the liver, Atrial septal defect, Diabetes mellitus, Dextrocardia, Cryptorchidism, ... |
ORPHA:2911 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Lateral ventricle dilatation |
OMIM:619278 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Autosomal Dominant Cerebellar Ataxia |
|
Dense calcifications in the cerebellar dentate nucleus, Azoospermia |
ORPHA:99 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Short stature, Spherocytosis |
ORPHA:66518 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Acute myeloid leukemia, Cerebral ischemia, Transient ischemic at... |
ORPHA:71493 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Ventricular septal defect |
OMIM:219730 |
Catel-Manzke Syndrome |
|
Overriding aorta, Dextrocardia, Ventricular septal defect, Cryptorchidism |
OMIM:616145 |
Desmosterolosis |
|
Patent ductus arteriosus, Ventriculomegaly, Ambiguous genitalia, female, Rhizomelia, Ambiguous ge... |
OMIM:602398 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hepatic fibrosis, Vascular dilatation, Myelomeningocele, Short stature, Cerebel... |
OMIM:311200 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... |
ORPHA:96253 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Cryptorchidism |
ORPHA:377 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Hydrocephalus, Bruising susceptibility, Lymphadenopathy,... |
ORPHA:667 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Renal artery aneurysm, Raynaud phenomenon, Elevated hepatic transaminase, Dil... |
OMIM:615688 |
Thanatophoric Dysplasia, Type I |
|
Disproportionate short-limb short stature, Neonatal death, Hydrocephalus, Lethal short-limbed sho... |
OMIM:187600 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Ischemic stroke, Hemolytic anemia, Cerebral hemorrhage, Dilation of Virchow-R... |
OMIM:175780 |
Tyrosinemia, Type I |
|
Cirrhosis, Anemia, Hepatic failure, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic t... |
OMIM:276700 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Distal Monosomy 10Q |
|
Patent ductus arteriosus, Lateral ventricle dilatation, Cerebellar hypoplasia, Short stature, Inf... |
ORPHA:96148 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary amenorrhea, Impotence, Aplasia of the ovary, Infertility, Agonadism, Non-obstructive azoo... |
ORPHA:2232 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, H... |
ORPHA:171 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Elongated superior cerebellar peduncle, Dysgenes... |
OMIM:608091 |
Riddle Syndrome |
|
Telangiectasia, Short stature, Generalized lymphadenopathy, Conjunctival telangiectasia, Intraven... |
ORPHA:420741 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... |
OMIM:400045 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Abnormality of the pancreas, Bifid scrotum, Hydrocephalus, Hypertension, Prominent scrotal raphe,... |
ORPHA:1555 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Chiari malformation, Ventriculomegaly, Bifid scrotum, Hydrocephalus, Hypoplastic labia majora, Hy... |
OMIM:123790 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:420179 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Abnormal... |
ORPHA:544488 |
Cockayne Syndrome A |
|
Irregular menstruation, Ventriculomegaly, Normal pressure hydrocephalus, Hypogonadism, Short stat... |
OMIM:216400 |
Glycogen Storage Disease Xii |
|
Anemia, Elevated circulating alanine aminotransferase concentration, Short stature, Normocytic an... |
OMIM:611881 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Hydrocephalus, Postnatal growth retardation |
OMIM:616294 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Dilated third ventricle, Ventricular septal defect, Lateral vent... |
ORPHA:464738 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Short stature, Micropenis, Lateral ventricle dilatation, Cryptorchidism |
OMIM:619847 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Cereb... |
OMIM:236670 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cirrhosis, Hepatic failure, Abnormal cerebellum morphology, Coronary artery atherosclerosis, Shor... |
ORPHA:77293 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... |
OMIM:171300 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Encephalocele, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:220497 |
Aicardi Syndrome |
|
Dilated third ventricle, Precocious puberty, Chiari malformation, Lateral ventricle dilatation, S... |
OMIM:304050 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Ambiguous genitalia, Tricuspid regurgitation, Ventricular septal defect, Latera... |
OMIM:263520 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Heterotaxy, Interrupted in... |
OMIM:618846 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Sturge-Weber Syndrome |
|
Pulmonary embolism, Chiari malformation, Abnormal cerebral vascular morphology, Hydrocephalus, Co... |
ORPHA:3205 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Pulmonic stenosis, Lateral ventricle dilatation |
OMIM:618914 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Cerebellar hypoplasia, Hydrocephalus, Cerebellar atrophy, Cerebellar v... |
OMIM:618590 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:217090 |
Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Aqueductal stenosis, Elongated superior cerebellar peduncle,... |
OMIM:619512 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Hypoplasia of the thymus, Truncus arteriosus, Retinal arteriolar tortuosity, Abnorma... |
ORPHA:567 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar cyst, Hydrocephalus, Ventriculomegaly, Cerebellar vermis hypoplasia |
OMIM:616538 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Patent foramen ovale, Ventricular septal defect, Hydrocephalus, Atr... |
OMIM:210710 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Short stature, Interrupted aortic a... |
ORPHA:250989 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Aplasia/Hypoplasia of the gallbladder, Dysplastic aortic va... |
ORPHA:264450 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydroceph... |
ORPHA:2839 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Restrictive Dermopathy |
|
Congenital adrenal hypoplasia, Atrial septal defect, Dextrocardia, Aplasia/Hypoplastia of the ecc... |
ORPHA:1662 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Spinal dysraphism, Encephalocel... |
ORPHA:2162 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Ventriculomegaly, Hypogonadism, Short stature, Hydrocephalus, Cryptorchi... |
ORPHA:500055 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Congenita... |
ORPHA:731 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse, Hydrocephalus, Hypertension, Bruising susceptibility... |
OMIM:616914 |
Apert Syndrome |
|
Chiari malformation, Ventriculomegaly, Hydrocephalus, Hypertension, Agenesis of corpus callosum, ... |
ORPHA:87 |
Jacobsen Syndrome |
|
Ventricular septal defect, Annular pancreas, Hydrocephalus, Labial hypoplasia, Clitoral hypoplasi... |
OMIM:147791 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Coronary artery stenosis, Angina pectoris, Abnormal cardiomyocyte morphology, Low-o... |
ORPHA:565612 |
Doors Syndrome |
|
Double outlet right ventricle, Aspiration pneumonia, Respiratory distress, Adrenal hyperplasia, T... |
ORPHA:79500 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Acute Transverse Myelitis |
|
Hypoglycorrhachia, CSF pleocytosis, Priapism, Hypertension, Abnormal libido, Increased CSF protei... |
ORPHA:139417 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Peho Syndrome |
|
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Hypospadias, Transposition ... |
OMIM:313850 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Hydrocephalus, Abnormal heart morphology, Cryptorchidism |
OMIM:601499 |
Myelofibrosis |
|
Purpura, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Cardiac arrest, Dilated cardiomyopathy... |
OMIM:300952 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Pulmonary arterial hypertension, Anemia, Pericardial effusion, Abnorm... |
ORPHA:77261 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Short stature, Hydrocephalus, Atrial septal defect, Hypertrophic cardiomyopathy, Pu... |
OMIM:115150 |
Apert Syndrome |
|
Rhizomelic arm shortening, Ventriculomegaly, Ventricular septal defect, Cerebellar hypoplasia, Hy... |
OMIM:101200 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Severe short stature, Abnormal heart morphology, Cryptorchidism |
ORPHA:1865 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism |
OMIM:619244 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Chiari malformation, Ventricular septal defect, Short stature, Mitral s... |
ORPHA:955 |
Witteveen-Kolk Syndrome |
|
Ventriculomegaly, Short stature, Microphallus, Phimosis, Intracranial hemorrhage, Unilateral cryp... |
OMIM:613406 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Ventricular septal defect, Cerebellar hypoplasia, Sho... |
ORPHA:96121 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Ascending aortic dissection, Thoracic aortic aneurysm... |
OMIM:613795 |
Fanconi Anemia, Complementation Group L |
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Anemia, Cerebellar hypoplasia, Hydrocephalus, Aplasia of the uterus, Bone marrow hypocellularity,... |
OMIM:614083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the co... |
OMIM:614643 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Chiari malformation, Agenesis of corpus callosum, Holoprosencephaly, Ch... |
OMIM:618820 |
Oculocerebrorenal Syndrome Of Lowe |
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Anemia, Ventriculomegaly, Short stature, Azoospermia, Delayed puberty, Cryptorchidism, Thrombocyt... |
ORPHA:534 |
Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Short stature, Pericardial effusion, Hydrocephalus, P... |
ORPHA:1272 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... |
OMIM:300908 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Irregular menstruation, Hypogonadism, Short stature, Hydrocephalus, Mild postnatal growth retarda... |
OMIM:101800 |
Mucopolysaccharidosis Type 3 |
|
Ventriculomegaly, Abnormal mitral valve morphology, Reduced left ventricular ejection fraction, H... |
ORPHA:581 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cerebellar cortical atrophy, Short stature, Decreased testicular size, Hydrocephalus, Hepatic ste... |
OMIM:619321 |
Craniopharyngioma |
|
Cerebral ischemia, Hypogonadism, Hydrocephalus, Myocardial infarction, Delayed puberty, Growth de... |
ORPHA:54595 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Hypoplastic male ex... |
OMIM:605627 |
Lymphangioleiomyomatosis |
|
Hydrocephalus, Chylopericardium, Lymphadenopathy, Gastrointestinal hemorrhage, Ascites, Abnormali... |
ORPHA:538 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Viss Syndrome |
|
Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Aortic root aneur... |
OMIM:619472 |
Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Ventriculomegaly, Syncope |
OMIM:616260 |
Lhermitte-Duclos Disease |
|
Enlarged cerebellum, Hydrocephalus, Ovarian neoplasm |
ORPHA:65285 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Patent ductus arteriosus, Cirrhosis, Microvesicular hepatic steatosis, Lateral ventricle dilatati... |
OMIM:300868 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Encephalocele, Cerebellar vermis hypoplasia |
ORPHA:2318 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature |
ORPHA:31 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Penile hypospadias, Short stature, Congenital posterior urethral valve, Cerebellar vermis hypopla... |
OMIM:620083 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Lateral ventricle dilatation, Bicuspid aortic va... |
ORPHA:457279 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Aortic root aneurysm, Patent foramen ovale, Rhizomelia, Short stature, Bicuspid aortic valve, Mit... |
OMIM:245600 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Severe short stature, Hydrocephalus, Encephalocele, Neonatal short-limb short stature |
OMIM:224400 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Aplasia of the uterus, Hypoplastic ... |
ORPHA:457284 |
15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Hydrocephalus, Dandy-Walker malformation, Mitral regurgitation, ... |
ORPHA:314585 |
Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... |
OMIM:609192 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele |
OMIM:614195 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Ambiguous genitalia, Encephalocele, Abnormal cardiac septum morphology, Cerebellar hypoplasia, Hy... |
ORPHA:2166 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Ventriculomegaly, Ventricular septal defect, Short stature, Hydrocephalus, Bi... |
OMIM:194190 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:617296 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces |
ORPHA:2148 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
Dubowitz Syndrome |
|
Anemia, Abnormality of female external genitalia, Short stature, Hydrocephalus, Acute lymphoblast... |
ORPHA:235 |
Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Hydrocephalus, Agenesis of corpus callosum, Cryptorchidism |
ORPHA:3301 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Pfeiffer Syndrome |
|
Hydrocephalus, Chiari malformation |
OMIM:101600 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:488627 |
Bainbridge-Ropers Syndrome |
|
Precocious puberty, Lateral ventricle dilatation, Inferior cerebellar vermis hypoplasia, Growth d... |
OMIM:615485 |
Cryptococcosis |
|
Cirrhosis, Lymphoid leukemia, Prostatitis, Hydrocephalus, Mediastinal lymphadenopathy, Peritonitis |
ORPHA:1546 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Dilated fourth ventricle, Lateral ventricle dilatation, Short stature, ... |
OMIM:619869 |
Marshall-Smith Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Ventriculomegaly, Ventricular septal d... |
OMIM:602535 |
Achondroplasia |
|
Disproportionate short stature, Hydrocephalus, Rhizomelia |
ORPHA:15 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Hypospadias,... |
OMIM:619479 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Fused labia minora |
OMIM:207410 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage, Intrauterine growth retardation, Short stature |
OMIM:619714 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst |
OMIM:617866 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Hydrocephalus, Atrial septal defect, Micropenis, Cerebellar vermis hypoplasia |
OMIM:616546 |
Nelson Syndrome |
|
Testicular neoplasm, Hypertension, Intracranial hemorrhage |
ORPHA:199244 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Stroke, Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Costello Syndrome |
|
Lymphangiectasis, Ventriculomegaly, Ventricular septal defect, Short stature, Enlarged cerebellum... |
OMIM:218040 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal fallopian tube morphology, Ambiguous genitalia, Tricuspid regurgitation, Abnormal testis... |
ORPHA:2556 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Patent foramen ovale, Colpocephaly, Enlarged cerebellum, Hypospadias, Cryptorchidism, Chordee |
ORPHA:477993 |
Reynolds Syndrome |
|
Biliary cirrhosis, Jaundice, Raynaud phenomenon, Elevated hepatic transaminase, Lymphopenia, Chol... |
OMIM:613471 |
Weaver Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, ... |
OMIM:277590 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Short stature, Cerebellar hypoplasia,... |
ORPHA:3472 |
Limb Body Wall Complex |
|
Abnormality of the liver, Encephalocele, Myelomeningocele, Ventricular septal defect, Spina bifid... |
ORPHA:2369 |
Cardiofaciocutaneous Syndrome |
|
Short stature, Hydrocephalus, Abnormal heart valve morphology, Atrial septal defect, Hypertrophic... |
ORPHA:1340 |
Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Chiari malformation, Aqueductal stenosis |
ORPHA:93259 |
Kohlschutter-Tonz Syndrome-Like |
|
Intrauterine growth retardation, Ventriculomegaly, Lateral ventricle dilatation, Ventricular sept... |
OMIM:619229 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Lateral ventricle dilatation, Cryptorchidism, Aortopulmonary collateral art... |
OMIM:617557 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Encephalocele, Abnormal cardiac septum morphology, Cerebellar hypoplasia, Hydro... |
ORPHA:90652 |
Loeys-Dietz Syndrome 2 |
|
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Chiari malformation, Ascending aortic dis... |
OMIM:610168 |
Fraser Syndrome 3 |
|
Hydrocephalus, Hypoplasia of penis, Stillbirth, Ascites, Small scrotum |
OMIM:617667 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Mitral valve prolapse, Aortic aneurysm, Hydrocephalus, Chiari type I malformation, Cryptorchidism |
OMIM:182212 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Abnormal preputium morphology, Glandular hypospadias, Choroid plexus cyst, Lateral ventricle dila... |
ORPHA:293725 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Mitral valve prolapse, Hydrocephalus, Bru... |
ORPHA:536467 |
Constricting Bands, Congenital |
|
Ectopia cordis |
OMIM:217100 |
Vacterl With Hydrocephalus |
|
Abnormal fallopian tube morphology, Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydroceph... |
ORPHA:3412 |
Opitz-Kaveggia Syndrome |
|
Short stature, Hydrocephalus, Hypospadias, Partial agenesis of the corpus callosum, Abnormal hear... |
OMIM:305450 |
Alexander Disease |
|
Sudden cardiac death, Hypotension, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Hypert... |
ORPHA:58 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Chiari malformation, Abnormal subclavian artery morphology, Postnatal growth retardation, Patent ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Chiari malformation, Abnormal subclavian artery morphology, Postnatal growth retardation, Patent ... |
ORPHA:353277 |
Kabuki Syndrome 1 |
|
Premature thelarche, Hemolytic anemia, Lateral ventricle dilatation, Ventricular septal defect, S... |
OMIM:147920 |
Fontaine Progeroid Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Tricuspid regurgitation, Short stature... |
OMIM:612289 |
Pmm2-Cdg |
|
Hepatic fibrosis, Abnormal liver parenchyma morphology, Aplasia of the ovary, Cerebellar hypoplas... |
ORPHA:79318 |
Monosomy 9Q22.3 |
|
Chiari malformation, Ventriculomegaly, Hydrocephalus, Cardiac fibroma, Ovarian fibroma |
ORPHA:77301 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Abnormal heart morphology |
OMIM:239300 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Growth delay, Short stature, Telangiectasia of the skin |
OMIM:616007 |
Posterior Meningocele |
|
Meningocele, Chiari malformation, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipom... |
ORPHA:268810 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Precocious puberty, Ventricular septal defect, Cerebral hemorrhage, Cry... |
OMIM:616682 |
Kabuki Syndrome |
|
Precocious puberty, Ventriculomegaly, Abnormal cardiac septum morphology, Short stature, Hydrocep... |
ORPHA:2322 |
Cousin Syndrome |
|
Rhizomelia, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydrocephalus, Hydranencephal... |
OMIM:260660 |
Crouzon Syndrome |
|
Hydrocephalus, Dysgerminoma |
OMIM:123500 |
Prader-Willi Syndrome Due To Translocation |
|
Patent ductus arteriosus, Patent foramen ovale, Lateral ventricle dilatation, Short stature, Exte... |
ORPHA:177907 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect, Agenesis of corpus callosum, Coarctation of aorta |
ORPHA:268249 |
Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc... |
ORPHA:63259 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus, Short stature |
ORPHA:220295 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventriculomegaly, Ventricular septal defect, Bifid scrotum, Heart murmur, Bicuspid aortic valve, ... |
OMIM:619475 |
Mend Syndrome |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Cryptorchidism, Aortic valve stenosis, D... |
ORPHA:401973 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Cerebellar hemisphere hypoplasia, Patent ductus arteriosus after birth at ter... |
ORPHA:500150 |
Osteopathia Striata With Cranial Sclerosis |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Hydrocephalus, Atrial septal ... |
OMIM:300373 |
Peters-Plus Syndrome |
|
Patent ductus arteriosus, Bilobate gallbladder, Ventriculomegaly, Hypoplasia of the vagina, Ventr... |
OMIM:261540 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectovaginal fistula, Hydrocephalus, Perineal fistula |
ORPHA:3016 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse, Hydrocephalus |
OMIM:104350 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Patent ductus arteriosus, Cardiomyopathy, Ventricular septal defect, Transposition of the great a... |
OMIM:312870 |
Achondroplasia |
|
Hydrocephalus, Rhizomelia, Neonatal short-limb short stature |
OMIM:100800 |
Oeis Complex |
|
Absent scrotum, Myelomeningocele, Chiari malformation, Vesicovaginal fistula, Ambiguous genitalia... |
OMIM:258040 |
Roberts-Sc Phocomelia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Bicornuate uterus, Enlarged labia minora, Hy... |
OMIM:268300 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypogonadism, External genital hypoplasia, Hydrocephalus, Epispadias, Severe short stature, Hypos... |
ORPHA:2658 |
Baller-Gerold Syndrome |
|
Chiari malformation, Short stature, Hydrocephalus, Perineal fistula, Anomalous splenoportal venou... |
OMIM:218600 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia, Hydrocephalus |
OMIM:277400 |
Raine Syndrome |
|
Neonatal death, Hydrocephalus, Short stature |
OMIM:259775 |
Helsmoortel-Van Der Aa Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Heart murmur, Short stature, Enlarged kidney, Mit... |
OMIM:615873 |
Mend Syndrome |
|
Short stature, Hydrocephalus, Cryptorchidism, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:300960 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Mohr Syndrome |
|
Hydrocephalus, Short stature |
OMIM:252100 |
Holoprosencephaly 7 |
|
Hydrocephalus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ho... |
OMIM:610828 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Ventricular septal defect, Aqueductal stenosis, Bicornuate uterus, Shor... |
OMIM:154400 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus, Cryptorchidism |
ORPHA:2378 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Abnormal cardiac septum morphology, Rhizomelia, Short... |
ORPHA:709 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Lateral ventricle dilatation |
ORPHA:2822 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypertension, Atrial ... |
OMIM:300896 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma, Ovarian carcinoma, Ovarian fib... |
OMIM:109400 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus, Hydrocephalus |
ORPHA:2736 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Hydrocephalus, Hypospadias, C... |
OMIM:102500 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Chiari malformation, Short stature, Agenesis of corpus callosum, Hydroc... |
OMIM:264090 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Hydrocephalus, Cervicitis, Dandy-Wa... |
ORPHA:722 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Bicornuate uterus, Hydrocephalus, Abnormality of the thymus, Vag... |
OMIM:219000 |
6Q Terminal Deletion Syndrome |
|
Phimosis, Hypospadias, Colpocephaly, Cerebellar hypoplasia |
ORPHA:75857 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, ... |
OMIM:607872 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Short stature, Spina bifida, Hydrocephalus, Hypertension, Renal artery stenosis |
OMIM:162200 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Short stature, Hydrocephalus, Hypertension, Arterial stenosis, Delayed pubert... |
ORPHA:636 |
Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Cerebellar hypoplasia, Hydrocephalus, Prominent scalp veins, Intrauterine growth r... |
ORPHA:3455 |
Holoprosencephaly 9 |
|
Short stature, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus callosum, Cryptor... |
OMIM:610829 |
Exstrophy-Epispadias Complex |
|
Female sexual dysfunction, Absent penis, Bifid scrotum, Spina bifida, Penoscrotal transposition, ... |
ORPHA:322 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Cryptorchidism, Tricuspid val... |
ORPHA:261337 |
Alobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Abnormal heart rate variability, Abnormal heart... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Abnormal heart rate variability, Abnormal heart... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Abnormal heart rate variability, Abnormal heart... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Abnormal heart rate variability, Abnormal heart... |
ORPHA:220386 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Lateral ventricle dilatation, Short stature, Hypertension, Congesti... |
OMIM:181270 |
Fetal Akinesia Deformation Sequence 1 |
|
Cerebellar hypoplasia, Hydrocephalus, Stillbirth, Cryptorchidism, Intrauterine growth retardation |
OMIM:208150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus |
OMIM:253280 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Anemia, Hypogonadism, Short stature, Bilateral cryptorchidism, Hydrocephalus |
ORPHA:3042 |
Microphthalmia With Limb Anomalies |
|
Short stature, Arrhinencephaly, Hydrocephalus, Venous insufficiency, Cryptorchidism |
ORPHA:1106 |
Floating-Harbor Syndrome |
|
Precocious puberty, Atrial septal defect, Mesocardia, Cryptorchidism, Tetralogy of Fallot |
ORPHA:2044 |
Campomelic Dysplasia |
|
Spinal dysraphism, Sex reversal, Spina bifida, Hydrocephalus, Hypospadias, Disproportionate short... |
OMIM:114290 |
Choreoacanthocytosis |
|
Elevated circulating alanine aminotransferase concentration, Lateral ventricle dilatation, Abnorm... |
ORPHA:2388 |
Floating-Harbor Syndrome |
|
Mesocardia, Atrial septal defect, Cryptorchidism |
OMIM:136140 |
Full Nf2-Related Schwannomatosis |
|
Hydrocephalus, Myelopathy, Abnormal cerebellum morphology |
ORPHA:637 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Patent foramen ovale, Ventricular septal defect, Short stature, Mitral valve prolapse, Hydrocepha... |
ORPHA:363700 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
Focal Dermal Hypoplasia |
|
Telangiectasia, Myelomeningocele, Chiari malformation, Short stature, Hydrocephalus, Labial hypop... |
OMIM:305600 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Hydrocephalus, Atrial septal defect, Hypospadias, Stillbirth, Crypto... |
OMIM:304120 |
Genitopatellar Syndrome |
|
Ventricular septal defect, Enlarged labia minora, Agenesis of corpus callosum, Labial hypoplasia,... |
OMIM:606170 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Chiari malformation, Hydrocephalus, Hypospadias, Cervical spina bi... |
ORPHA:573278 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Bifid scrotum, Hydrocephalus, Rectoperineal fistula, Atrial septal def... |
OMIM:107480 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Chiari malformation, Ventricular septal defect, Hydrocephalus, Coarctat... |
OMIM:164210 |