Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 25 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 17 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... |
OMIM:614874 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:616481 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 30 |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... |
OMIM:616037 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 14 |
|
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Dextrocardia, Situs inversus totalis, Bronchiectasis, Decreased na... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothy... |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due t... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:612650 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent si... |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:617092 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, Polysplenia |
OMIM:612776 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
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 |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... |
OMIM:619608 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... |
OMIM:612649 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal inferior vena cava morphology, Atrial situs ambiguous, Abnormal atrial... |
ORPHA:244 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... |
OMIM:614779 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... |
OMIM:208540 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 6 |
|
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis |
OMIM:610852 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus, Situs inversus totalis, Absent outer dynein arms, ... |
OMIM:244400 |
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 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia |
OMIM:616726 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Short stature, Ventricular septal defect, Situs inversus totalis, Thiamine-... |
OMIM:249270 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypogonadism |
OMIM:615985 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ep... |
OMIM:614034 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus |
OMIM:610947 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abn... |
ORPHA:1666 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia, Purpura |
ORPHA:3204 |
Nephronophthisis 16 |
|
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi... |
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 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Respiratory insufficiency |
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 |
|
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation |
OMIM:116860 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Choroid ... |
OMIM:267010 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... |
OMIM:306955 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Short stature, Epistaxis, Subarachnoid hemorrhage, Asplen... |
OMIM:185070 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Cardiomyopathy, Endocardial fibroelastosis, Arrhy... |
ORPHA:2119 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Hydrocephalu... |
ORPHA:2969 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hydrocephalus, Micropenis, Hypoplastic spleen, Ascites |
OMIM:602361 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... |
OMIM:616084 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia, Thrombocytopenia |
ORPHA:1237 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situ... |
OMIM:619123 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve ... |
ORPHA:99776 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Short stature, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Paten... |
OMIM:619657 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Thrombocytopenia |
OMIM:166990 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia, Primary hypothyroidism |
OMIM:225050 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology |
ORPHA:2703 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu... |
OMIM:615219 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short stature, Dextrocardia, Unilateral vertebral artery hypoplasia,... |
OMIM:613686 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Short stature, Postnatal growth retard... |
ORPHA:168577 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Thrombocytopenia, ... |
OMIM:610333 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Lissencephaly 4 |
|
Short stature, Growth delay, Colpocephaly, Cerebellar hypoplasia, Agenesis of corpus callosum |
OMIM:614019 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia, Hypothyroidism |
ORPHA:1882 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... |
OMIM:270100 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Patent ductus arteriosus, Ovarian cyst, Stroke, Sp... |
OMIM:618188 |
Brain Small Vessel Disease 2 |
|
Growth delay, Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Situs inversus totali... |
ORPHA:564 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... |
OMIM:617205 |
Icf Syndrome |
|
Communicating hydrocephalus, Short stature, Abnormality of neutrophils, Lymphopenia, Anemia |
ORPHA:2268 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1861 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Respiratory distress |
ORPHA:89844 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Rectovaginal fistula, Transposition of th... |
ORPHA:1780 |
Meacham Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... |
ORPHA:3097 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambi... |
OMIM:249000 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Situs inversus totalis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebel... |
ORPHA:990 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Petechiae, Cerebral hemorrhage, Se... |
OMIM:617397 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... |
ORPHA:25 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Sudden cardiac death, Situs inversus totalis, Abnorma... |
ORPHA:991 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Dextrocardia, Secundum atrial septal defect, Asthma, Tachyp... |
ORPHA:2257 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... |
OMIM:265380 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Sti... |
ORPHA:85212 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis |
OMIM:202650 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Colpocephaly, Decreased liver function |
OMIM:614870 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Hepatic cysts |
OMIM:613095 |
Mirage Syndrome |
|
Short stature, Hypospadias, Hypergonadotropic hypogonadism, Petechiae, Thrombocytopenia, Hydrocep... |
OMIM:617053 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Anterior hypopituitarism, Dextrocardia |
ORPHA:2863 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Mitral valve prolapse, Mitral regurgitation, Chiari ... |
ORPHA:2462 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Hydrocephalus, Jaund... |
ORPHA:858 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Short stature, Abnormal heart valve morphology, Abnorm... |
ORPHA:580 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Hydrocephalus, Partial agenesis of the corpus callosum, Anemia, Cerebellar h... |
OMIM:619302 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Azoos... |
ORPHA:280679 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lym... |
ORPHA:3226 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:123155 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Abnormal cerebellum morp... |
ORPHA:97339 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Cerebellar atrophy, Pancytopenia, Aortic regurgitation, Hepatospleno... |
ORPHA:309282 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... |
OMIM:220200 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Dexamethasone-suppressible primary hy... |
ORPHA:403 |
Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus |
ORPHA:475 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Hypogonadism, Dextrocardia |
OMIM:615994 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Growth delay, Cerebellar hypoplasia, I... |
ORPHA:488635 |
Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia, Patent foram... |
OMIM:617746 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hydrocephalus... |
ORPHA:90065 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Short stature, Ventricular septal defect, Postnatal growth retardation, Splenomegal... |
OMIM:620210 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Dandy-Walker malfor... |
OMIM:607091 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce... |
OMIM:619111 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... |
ORPHA:326 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Severe short stature, Ventricular septal defect, Dextrocardia, Hypospa... |
ORPHA:2461 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:251274 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Hepatomegaly, Hydrocephalus |
OMIM:300884 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadism, Asplenia, Male hy... |
OMIM:240300 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Jaundice |
OMIM:129850 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Postnatal growth retardation,... |
OMIM:300845 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cere... |
OMIM:618291 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypospadias |
ORPHA:250994 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... |
ORPHA:1330 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Chiari malformati... |
ORPHA:261102 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Short stature |
ORPHA:1532 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Masa Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:303350 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Ventricular septal defect, Splenomegal... |
OMIM:615630 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricula... |
OMIM:619534 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... |
OMIM:613313 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... |
ORPHA:140989 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Short stature, Hypospadias, Epistaxis,... |
OMIM:619841 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... |
ORPHA:398124 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, ... |
ORPHA:464329 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Sple... |
ORPHA:79301 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, ... |
ORPHA:2481 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ventricular septal de... |
OMIM:614424 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepat... |
OMIM:614480 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, CSF pleocytosis, Splenomegaly, Increased CSF interferon alpha, In... |
OMIM:615010 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Left... |
OMIM:613153 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia |
OMIM:182410 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrh... |
ORPHA:99147 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl... |
OMIM:601186 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:620010 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Congestive heart... |
OMIM:269920 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism |
OMIM:614514 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Scimitar Syndrome |
|
Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous ... |
ORPHA:185 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Cerebellar hypoplasia |
OMIM:300049 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Cerebellar atrophy, Ventriculomegaly |
OMIM:617011 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Microcytic anemia, Pulmonary ... |
ORPHA:774 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... |
OMIM:617967 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart fa... |
ORPHA:163596 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadias, Situs inve... |
ORPHA:289 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct... |
OMIM:218350 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Bruising suscepti... |
ORPHA:721 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Bruising su... |
ORPHA:99828 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hepatomegaly, Ventriculomegaly, Pancytopenia, Ventricular septal defect, Elev... |
OMIM:614576 |
Cach Syndrome |
|
Cerebellar atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hepatosplenomegaly, Gr... |
ORPHA:135 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Cerebellar hypoplas... |
OMIM:618886 |
Pseudoaminopterin Syndrome |
|
Short stature, Asplenia, Cryptorchidism, Hydrocephalus, Patent foramen ovale |
ORPHA:221120 |
Double Outlet Right Ventricle |
|
Tachycardia, Short stature, Ventricular septal defect, Double outlet right ventricle, Heart murmu... |
ORPHA:3426 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior cerebella... |
OMIM:304100 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Micropenis, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:457359 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Mitral valve prolapse, Azoospermia |
ORPHA:2183 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:619868 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus |
ORPHA:85335 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Bone-marrow foam cells, T... |
OMIM:607616 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutrop... |
OMIM:606054 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy, ... |
OMIM:613155 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short stature, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydroc... |
ORPHA:163979 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Growth delay |
ORPHA:79238 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... |
OMIM:164280 |
Ring Chromosome 7 Syndrome |
|
Short stature, Hypospadias, Situs inversus totalis, Abnormal cerebellum morphology, Heart murmur,... |
ORPHA:1449 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis, Cerebel... |
OMIM:616719 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Biemond Syndrome Type 2 |
|
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Delayed p... |
ORPHA:141333 |
Renpenning Syndrome |
|
Severe short stature, Hypospadias, Growth delay, Heterotaxy, Decreased testicular size |
ORPHA:3242 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine conc... |
OMIM:616034 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... |
ORPHA:49566 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Short stature, Hypospadias, Patent ductus arteriosus, Lateral ventricl... |
OMIM:618330 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia |
OMIM:616531 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis |
OMIM:300982 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Hydrocephal... |
ORPHA:381 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hydrocephalus, Vaginal atr... |
OMIM:273395 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Vascular dilatation, Hydrocephalus, Part... |
OMIM:220220 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular septal... |
OMIM:617751 |
1P31P32 Microdeletion Syndrome |
|
Chiari type I malformation, Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon |
ORPHA:401986 |
Joubert Syndrome With Ocular Defect |
|
Abnormality of the hypothalamus-pituitary axis, Apnea, Dextrocardia, Abnormal pattern of respiration |
ORPHA:220493 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Prolonged bleeding a... |
ORPHA:98879 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:616816 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Splenomegaly, Hydrocephalus, Cere... |
ORPHA:79332 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:231393 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism, Abnormal m... |
ORPHA:1926 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Neonatal death, Atri... |
OMIM:314390 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Dextrocardia, Abnormality of the pancreas, Abnormal cardiac septum morphology,... |
ORPHA:2315 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Ventriculom... |
ORPHA:101070 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventriculomegaly |
ORPHA:324416 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:1528 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Cryptorchidism, Atrioventricular canal defect, Dextrocardia, Supernumerary nipple |
OMIM:618929 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage, Dense calcifications in the cerebellar dentate nucleus |
ORPHA:542310 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventricular canal defe... |
OMIM:264480 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Epistaxis, Decreased ... |
ORPHA:231580 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistu... |
OMIM:614294 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation, Premature ovarian insufficiency |
OMIM:615889 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... |
ORPHA:99827 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Hydrocephalus, Meningoce... |
OMIM:611134 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... |
OMIM:619463 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Spl... |
ORPHA:2585 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... |
ORPHA:64743 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Hydrocephalus, Menin... |
ORPHA:3376 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature, Cerebellar hypoplasia |
OMIM:618174 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, H... |
OMIM:607361 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia |
ORPHA:401815 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia |
ORPHA:100025 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Intraventricular hemorrhage, Ventricul... |
OMIM:616430 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Pancreatitis, Throm... |
OMIM:251000 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi... |
OMIM:606003 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration, Abnormal dentate nucleus morphology |
OMIM:203450 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... |
ORPHA:370959 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... |
OMIM:615234 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Petechiae, Splenomegaly, Jaundice,... |
OMIM:251290 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:618266 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Abnormality of the tonsils, Abnormal heart valve morphology, Splenom... |
ORPHA:93476 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, At... |
OMIM:277380 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Partial agenesis of the corpus ca... |
OMIM:619517 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Short stature, Hypospadias, Por... |
OMIM:243800 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Short stature, Hypogonadotropic hypogonadism |
OMIM:619420 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Increased circula... |
ORPHA:90790 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ... |
OMIM:620300 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypoplastic female external genitalia... |
OMIM:618577 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus, Portal fibrosis, Cholestasis |
OMIM:615862 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Chiari type I malfo... |
ORPHA:261537 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Increased CSF prote... |
OMIM:272200 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Cerebellar gliosis, Partial agenesis of the corpus callosum, Increased... |
ORPHA:79243 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... |
ORPHA:2414 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Stillbirth, Disproportionate short-limb short stature, Anemia |
OMIM:241500 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Temple Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Precocious puberty |
ORPHA:254516 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst |
OMIM:615181 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... |
OMIM:609981 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... |
OMIM:615191 |
Alg2-Cdg |
|
Hepatomegaly, Lateral ventricle dilatation |
ORPHA:79326 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation |
ORPHA:83473 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Hyd... |
OMIM:300514 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Chiari type I malfo... |
ORPHA:261552 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Marden-Walker Syndrome |
|
Cryptorchidism, Dextrocardia |
OMIM:248700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Agenesis of corpus callosu... |
OMIM:175700 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, CS... |
ORPHA:158057 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect, Leukemia, Ventriculomegaly |
OMIM:602501 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy |
ORPHA:77299 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Aspergillosis |
|
Eosinophilia, Hepatitis, Intracranial hemorrhage, Stroke, Neutropenia |
ORPHA:1163 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Webbed penis, Micro... |
ORPHA:2152 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia o... |
ORPHA:96092 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content |
OMIM:261750 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal bleeding, Anemia ... |
ORPHA:75564 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hydrocephalus, Hypertension, Abnor... |
ORPHA:2169 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... |
ORPHA:324636 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly... |
OMIM:612840 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Az... |
ORPHA:8 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of the gallbladder, Abnormal mesentery mo... |
ORPHA:2075 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Hydrocephalus, Double outlet right ventricle, Hypoplastic... |
OMIM:220210 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Hydrocephalus, Short stature |
ORPHA:1516 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Cryptorchidism, Hydrocephalus, Patent ductus arterio... |
OMIM:609757 |
Isolated Cleft Lip |
|
Situs inversus totalis |
ORPHA:199302 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:618302 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Cerebellar hypoplasia, Neonatal death, Hepatic... |
OMIM:311900 |
Cog5-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Short stature, Cryptorchidism, H... |
ORPHA:263487 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged proth... |
OMIM:277450 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Ventricular septal defect, Agenesis of corpus callosum, Colpocephaly, Chiari malfo... |
OMIM:609053 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Agenesis of corpus callosum, Intrahepatic biliary dysgenesis, Hepatomegaly,... |
OMIM:614866 |
Czeizel-Losonci Syndrome |
|
Hypoplastic nipples, Dextrocardia |
ORPHA:2437 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... |
OMIM:314050 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cerebellar calcifications, Petechiae,... |
OMIM:225750 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Vascular calcification, Thrombocytopenia |
OMIM:231000 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasia, Elevated hepa... |
OMIM:216360 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ... |
ORPHA:96181 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short stature, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:2701 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve... |
OMIM:607596 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Short stature |
OMIM:309400 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, Agenesis of corpus call... |
ORPHA:300573 |
3C Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Short stature, Ventricular septal defect, Abnormal mit... |
ORPHA:7 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Postnatal growth retardation, Splenomegaly, Pancreatic l... |
ORPHA:1655 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Growth delay, Decreased proportion of... |
OMIM:243700 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Hypertension, Cholestasis |
OMIM:105200 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Short stature, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous g... |
ORPHA:90795 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Abnormality of the male genitalia, Hydrocephalus, P... |
OMIM:614886 |
Medulloblastoma |
|
Elevated hepatic transaminase, Cerebellar calcifications, Cerebellar hemorrhage, Hydrocephalus, C... |
ORPHA:616 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Microp... |
ORPHA:171839 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Elevated circulating aspa... |
OMIM:257200 |
Estrogen Resistance |
|
Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Ascites, Polycythemia |
ORPHA:284227 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Megaloblastic anemia, Pulmonary embolism, Hydrocephalus, Jaundice, Dilated cardiomyopathy, Subdur... |
ORPHA:79282 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Hydrocephalus... |
OMIM:231005 |
Joubert Syndrome With Hepatic Defect |
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Elevated hepatic transaminase, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasi... |
ORPHA:1454 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Epistaxis, Splenome... |
OMIM:211600 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma... |
ORPHA:163961 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... |
OMIM:619487 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca... |
OMIM:619955 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Paten... |
ORPHA:77298 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Growth delay, Reduc... |
ORPHA:79284 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hy... |
ORPHA:824 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ambiguous genitalia, Short stature, Hypospadias, Postnatal growth retardation, Cry... |
OMIM:257300 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Cerebellar hypoplasia |
OMIM:618731 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Elevated circulating aspartate aminotransferase concentration, Hypopla... |
OMIM:613154 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Atrial ... |
ORPHA:93274 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Superficial Siderosis |
|
Cerebellar atrophy, Enlarged sylvian cistern, Abnormal bleeding, Abnormal cerebrospinal fluid mor... |
ORPHA:247245 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation, Dec... |
ORPHA:85284 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Intrauterine growth retardation, Dandy-Wal... |
OMIM:225790 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... |
ORPHA:77259 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Severe postnatal growth retardation, Lateral... |
ORPHA:3078 |
Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, Primary... |
ORPHA:79083 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... |
OMIM:619418 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Splenomegaly, Hyd... |
ORPHA:3452 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... |
OMIM:618736 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly |
OMIM:301081 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short stature, Hydrocephalus, Chiari type I malformation, Micropenis |
OMIM:241800 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... |
ORPHA:158029 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth ... |
OMIM:618541 |
H Syndrome |
|
Short stature, Microcytic anemia, Hydrocephalus, Abnormal cardiovascular system physiology, Ameno... |
ORPHA:168569 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Short stature, Hypospadias, Phimosis, Situs inversus totalis, Atrial s... |
OMIM:309500 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrotransposition of the great arteries, Colp... |
OMIM:618619 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Ventricular septal defect |
OMIM:611812 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter... |
ORPHA:96170 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Abnormal cerebellum mor... |
ORPHA:2356 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Sub... |
ORPHA:90324 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly, Telangi... |
ORPHA:93400 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Atr... |
OMIM:608629 |
Temple Syndrome |
|
Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation... |
OMIM:616222 |
Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus |
ORPHA:363717 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Chiari malformation, Cerebral ischemia, Arteriovenous ... |
ORPHA:60040 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Abnormal intrahepa... |
ORPHA:363618 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc... |
OMIM:259720 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Patent ductus arteriosus, Disproportionate short-limb short stature, Atrial septal... |
ORPHA:2655 |
Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation |
OMIM:614219 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninf... |
OMIM:603909 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Dysplastic tricuspid valve,... |
OMIM:612863 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Severe short stature, Short stature, Abnormal heart valve morphology, Splenomegaly,... |
OMIM:309900 |
Trisomy 1Q |
|
Small scrotum, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus... |
ORPHA:261344 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... |
OMIM:616602 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte en... |
ORPHA:264580 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
ORPHA:284417 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, Hydrocephalus, Hepatic cal... |
ORPHA:228308 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Bilateral cryptorchidism, Cryptorc... |
OMIM:614976 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Ventricular septal defect, Postnatal growth retardation, Partial agenesis of the c... |
OMIM:620113 |
Desmosterolosis |
|
Severe short stature, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:35107 |
Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Postnatal growth retardation, Abnormal internal carotid arter... |
ORPHA:2177 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... |
ORPHA:91138 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Growth delay, Chiari type I malformation, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... |
OMIM:616589 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly, Acute leukemia |
ORPHA:2770 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Agenesis... |
OMIM:207950 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Bradycardia, Neonatal death, Decreased CSF glut... |
OMIM:610015 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, CSF pleocytosis, Thrombocytopenia, Spleno... |
ORPHA:540 |
Fish-Eye Disease |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy, Atherosclerosis |
ORPHA:79292 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Int... |
ORPHA:394 |
Hemangioblastoma |
|
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Cryptorchidism, ... |
OMIM:620305 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Abnormal cerebral vasc... |
ORPHA:3318 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Intrauterine ... |
OMIM:612938 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Growth delay, Elevated hepatic transaminase |
OMIM:306000 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Decreased liv... |
OMIM:618606 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemolytic anemia, Short stature, ... |
ORPHA:1855 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypop... |
ORPHA:397715 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Precocious puberty, Abnormal he... |
ORPHA:356961 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Shock, Tachycardia, Petechiae, Epistaxis, Hematemesis, Leukocytosi... |
ORPHA:340 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Short stature, Rhizomelia, Hypospadias, Postnat... |
OMIM:611209 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Abnormality of the spleen, Hydrocephalus, Abnormality of the liver, Abnormal morph... |
ORPHA:1834 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Hydrocephalus, Abnormal cardiac ventricle mo... |
ORPHA:2306 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Atrial septal defect, Aortic valve st... |
ORPHA:459061 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Hydrocephalus, C... |
OMIM:613001 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia... |
OMIM:608013 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Hepatosplenomega... |
ORPHA:2072 |
Lowry-Maclean Syndrome |
|
Hypospadias, Bilateral cryptorchidism, Abnormality of the abdominal organs, Hydrocephalus, Coarct... |
ORPHA:2409 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter... |
OMIM:609029 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal cerebellum morphology, Cryptorchidism, Increased CSF lactate, Lateral ventricle dilatati... |
ORPHA:565624 |
Optic Pathway Glioma |
|
Growth delay, Hydrocephalus, Precocious puberty |
ORPHA:2086 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Hepatitis, Biliar... |
ORPHA:227990 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Short stature |
ORPHA:585 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation, Hydrocele testis |
ORPHA:85290 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Atrial septal defect, Micropenis, Pancreatic hypoplasia, Hepatomegaly, Short statur... |
OMIM:602782 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aquedu... |
OMIM:619895 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Atrial septal defect, Intrauter... |
OMIM:614846 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation |
ORPHA:93262 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hypospadias, Postnatal growth ret... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hypospadias, Postnatal growth ret... |
ORPHA:363958 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Absent gallbladder, Abnormal internal genitalia, Hydrocephalus, Anenceph... |
OMIM:612284 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Anemia |
OMIM:612301 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Thrombocyt... |
OMIM:259710 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly |
OMIM:619833 |
Knobloch Syndrome |
|
Lymphangioma, Dextrocardia |
ORPHA:1571 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology |
OMIM:276950 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Thrombocytopenia |
OMIM:259700 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Aortic aneurysm, Arterio... |
ORPHA:109 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Stromme Syndrome |
|
Accessory spleen, Cerebellar vermis hypoplasia, Hydrocephalus, Stillbirth, Cerebellar hypoplasia,... |
OMIM:243605 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Hydrocephalus, Hepatic calcification, Cardiomyopathy,... |
ORPHA:157 |
1Q44 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Abnormal cardiac septum morphology, Agenesis of corpu... |
ORPHA:238769 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation |
OMIM:600721 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Hurler Syndrome |
|
Hepatomegaly, Short stature, Abnormality of the tonsils, Abnormal heart valve morphology, Angina ... |
ORPHA:93473 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, A... |
OMIM:269860 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Short stature, Ventricular septal defect, Hypospadias, Ovotestis, Junctional ec... |
OMIM:309801 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retard... |
ORPHA:79240 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly... |
ORPHA:261250 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebel... |
ORPHA:1647 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hydrocephalus, Short stature, Anemia |
ORPHA:53 |
Bilateral Generalized Polymicrogyria |
|
Growth delay, Lateral ventricle dilatation, Short stature |
ORPHA:208447 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Enlarged tonsils,... |
OMIM:607014 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c... |
OMIM:615895 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hydrocephalus, Cerebellar hypoplasia, Intrauterine growth retardation |
ORPHA:163966 |
Monosomy 18Q |
|
Left-to-right shunt, Short stature, Absence of the pulmonary valve, Secundum atrial septal defect... |
ORPHA:1600 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation |
OMIM:256850 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Myopathy, Centronuclear, X-Linked |
|
Elevated hepatic transaminase, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Short stature, Cryptorchidism, Mitral valve prolapse, Lateral ventricle dil... |
OMIM:619745 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Lateral ventricle dilatation |
OMIM:615716 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Atrial septal defe... |
OMIM:603387 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Car... |
ORPHA:572798 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Mild postnatal growth retardation, Anisocytosis,... |
OMIM:224120 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, M... |
OMIM:619951 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Splenomegaly... |
ORPHA:251066 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Splenomegaly, Intrauterine growth retardation |
ORPHA:3035 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Pericardial effusion, Hydrocephalus, Cerebellar hypoplasia, Micropenis, Dandy-Walk... |
OMIM:617822 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Chiari type I malformation... |
OMIM:270400 |
Crouzon Syndrome |
|
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia |
ORPHA:207 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Cerebellar hypoplasia,... |
OMIM:253800 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformat... |
ORPHA:899 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Increased CSF lactate, Prolonged prothrombin time, Neonatal death, I... |
OMIM:619055 |
Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Retinal telangiectasia |
OMIM:620157 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Severe short stature, Short stature, Abnormal heart valve morphology, Postnatal gro... |
OMIM:253220 |
Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... |
OMIM:139090 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Hydrocephalus, Cry... |
OMIM:227646 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydrocephalus, Abnormality o... |
ORPHA:59315 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Agenesis of c... |
OMIM:612582 |
Coccidioidomycosis |
|
Pericarditis, Abnormal sperm morphology, Eosinophilia, CSF pleocytosis, Hydrocephalus, Abnormalit... |
ORPHA:228123 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
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 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocyto... |
OMIM:153670 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Lateral ventricle dilatation, Short stature, Dextrotransposition of th... |
OMIM:619995 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Ab... |
ORPHA:314588 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Fg Syndrome Type 1 |
|
Short stature, Hypospadias, Abnormal cerebellum morphology, Hydrocephalus, Cryptorchidism, Mitral... |
ORPHA:93932 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Atrial septal defect, A... |
OMIM:618162 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Ambiguous genitalia... |
OMIM:614969 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Cerebellar vermis hypoplasia, Ventricular septal defect, Coarctation of aorta, ... |
ORPHA:1692 |
Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Short stature, Tricuspid regurgitation, Patent du... |
OMIM:618460 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cerebellar dysplasia, Hydrocephalus, Partial absence of cerebellar vermis, Cerebel... |
OMIM:613150 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Abnormal cerebellum morpholog... |
ORPHA:86309 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Trisomy 17P |
|
Hypoplasia of penis, Short stature, Hydrocephalus, Patent ductus arteriosus, Growth delay, Hypopl... |
ORPHA:261290 |
Mucopolysaccharidosis Type 1 |
|
Short stature, Abnormality of the tonsils, Abnormal heart valve morphology, Splenomegaly, Hydroce... |
ORPHA:579 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... |
OMIM:612541 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale, Hyposegmentation of neu... |
OMIM:620075 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... |
OMIM:616028 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Pontocerebellar atrophy |
OMIM:617854 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Ventriculomegaly, Short stature, Rhizomeli... |
ORPHA:666 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... |
OMIM:301078 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Agenesi... |
ORPHA:1812 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, H... |
ORPHA:90062 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology, Agenesis of corpu... |
ORPHA:2189 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Complete atrioventricular canal defect, Ventricular septal defect, Adrenal glan... |
OMIM:236680 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... |
OMIM:263200 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Short stature, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Art... |
ORPHA:536545 |
Tetrasomy 5P |
|
Postnatal growth retardation, Congestive heart failure, Hydrocephalus, Heart murmur, Cerebellar h... |
ORPHA:3309 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Gaucher Disease |
|
Abnormal bleeding, Hepatomegaly, Ventriculomegaly, Pancytopenia, Short stature, Abnormal pericard... |
ORPHA:355 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation |
OMIM:300863 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Short stat... |
ORPHA:84 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Abnormality of neutrophils, Hydrocephalus, Hypochromic anemia, Aplasia/Hypoplasia ... |
ORPHA:2720 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Short stature |
OMIM:618480 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Short stature, Ventricular septal defect, Cryptorchidism, Hydrocephalus, M... |
OMIM:130720 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Small scrotum, Hypospadias, Ambiguous genitalia, Cryptorchidism, Hydrocephalus,... |
OMIM:612651 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Dandy-Walker malformation, Agen... |
OMIM:618476 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Hydrocephalus, Intrauterine growth retardation, Bruising susceptibil... |
OMIM:612940 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Biliary atresia, Abnorm... |
ORPHA:3310 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Congestive heart failure, Hydrocephalus, Disproportionate short... |
OMIM:616482 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:377 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Short stature, Splenomegaly, Hydrocephalus, Disproportiona... |
OMIM:253200 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Double outlet right ventricle, Mitral va... |
OMIM:300166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:615249 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Halperin-Birk Syndrome |
|
Colpocephaly, Perimembranous ventricular septal defect, Intrauterine growth retardation, Agenesis... |
OMIM:618651 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephalus, Patent ductus arte... |
ORPHA:505248 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Elevated hemoglobin A1c |
OMIM:619278 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regur... |
OMIM:300972 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Heterotaxy, Interrupted in... |
OMIM:618846 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Patent ductus arteriosus, Coarctation of aorta, Colpocephaly, Mitral stenosis, Age... |
OMIM:617260 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Portal fibrosis, Hepatic fibrosis, ... |
OMIM:619377 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Short stature, Bicuspid aortic valve, I... |
ORPHA:84064 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral v... |
ORPHA:544488 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Partial agenesis of the corpus callos... |
ORPHA:300570 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Lethal short-limbed short stature,... |
ORPHA:1860 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Ventricular septal defect, Hydrocephalus, Chiari type I malformation, Hematochezia... |
OMIM:619575 |
Meningioma |
|
Hypogonadotropic hypogonadism, Cerebral hemorrhage, Abnormal cerebellum morphology, Hydrocephalus... |
ORPHA:2495 |
Poland Syndrome |
|
Diabetes mellitus, Dextrocardia, Cryptorchidism, Acute leukemia, Abnormality of the liver, Atrial... |
ORPHA:2911 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, Hydrocephalu... |
OMIM:261740 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Lateral ventricle dilatation, Short stature, Micropenis |
OMIM:619847 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Abnormal bleeding, Transient ischemic attack, Splenomegaly, Peripheral ar... |
ORPHA:71493 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism, Hypertension, Prominen... |
ORPHA:1555 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cryptorchidism, Cerebellar hypoplas... |
OMIM:236670 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum m... |
ORPHA:250989 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neopl... |
ORPHA:171 |
Orofaciodigital Syndrome I |
|
Short stature, Pancreatic cysts, Vascular dilatation, Myelomeningocele, Hydrocephalus, Abnormal h... |
OMIM:311200 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Distal Deletion 10Q |
|
Short stature, Postnatal growth retardation, Patent ductus arteriosus, Lateral ventricle dilatati... |
ORPHA:96148 |
Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Partial agenesis of the corpus callosum, ... |
OMIM:602398 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformatio... |
OMIM:617281 |
Catel-Manzke Syndrome |
|
Cryptorchidism, Overriding aorta, Ventricular septal defect, Dextrocardia |
OMIM:616145 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Pulmonary artery ... |
ORPHA:667 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten... |
OMIM:615688 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Reti... |
OMIM:175780 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Cry... |
OMIM:619512 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hepatomegaly, Short stature, Splenomegaly, Cryptorchidism, Irregular menstrua... |
OMIM:216400 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, ... |
ORPHA:500055 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Hy... |
OMIM:608091 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb sho... |
OMIM:187600 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology |
OMIM:601499 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Intraventricular hemorrh... |
ORPHA:420741 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Hepatomegaly, Short stature, Abnormal heart valve morphology, Autoimmune throm... |
ORPHA:77293 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Atrial septal defect, Micr... |
OMIM:210710 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Pulmonary arterial hypertension, Lateral ventricle dilata... |
ORPHA:464738 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... |
OMIM:611881 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Abnormal atrioventricular connection, Cryptorchidism, Hydro... |
ORPHA:264450 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Hypertension, Chiari malform... |
OMIM:123790 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holop... |
OMIM:147791 |
Pettigrew Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Vent... |
OMIM:304340 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Cerebellar vermis hypoplasia, Pancreatic fibrosis, Ventricular septal defect... |
OMIM:263520 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
Restrictive Dermopathy |
|
Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Congenital adrenal hypoplasia, Tra... |
ORPHA:1662 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:2162 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormality of the uterus, Atrial sept... |
ORPHA:567 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:220497 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Postnatal growth retardation, Precocious puberty, Par... |
OMIM:304050 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst |
OMIM:616538 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Abnormal heart morphology |
ORPHA:1865 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... |
ORPHA:3205 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Right bundle branch block, Cereb... |
OMIM:618590 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Plasminogen Deficiency, Type I |
|
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Rabin-Pappas Syndrome |
|
Retinal telangiectasia, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Cerebe... |
OMIM:620155 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Chiari type I malform... |
OMIM:101200 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Colpocep... |
OMIM:618820 |
Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Congenital hypothyroidism, Aspiration pneumonia, Throm... |
ORPHA:79500 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydroceph... |
ORPHA:2839 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Leukocytosis, Hydrocephalus, Hypoplasia of the ovary, Intrauterine growth retardat... |
OMIM:619321 |
Witteveen-Kolk Syndrome |
|
Short stature, Hypospadias, Unilateral cryptorchidism, Phimosis, Dysplastic corpus callosum, Grow... |
OMIM:613406 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse, Hypertension, Aortic root an... |
OMIM:616914 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morph... |
ORPHA:565612 |
Apert Syndrome |
|
Hydrocephalus, Ovarian neoplasm, Hypertension, Chiari malformation, Agenesis of corpus callosum, ... |
ORPHA:87 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Postnatal growth retardation, Pericardial effusion, Hydrocephalus, C... |
ORPHA:1272 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Cryptorchidism, Hydrocephalus, Irregular menstr... |
OMIM:101800 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct... |
ORPHA:96121 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
Peho Syndrome |
|
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Thoracoabdominal Syndrome |
|
Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great art... |
OMIM:313850 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Growth delay, Bone marrow hypocellularity, Cerebellar hypoplasia, Aplasia of the u... |
OMIM:614083 |
Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Splenomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic... |
OMIM:115150 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Short stature, Mitral stenosis, Ventricular septal defect, Hypospadias, Splenomegal... |
ORPHA:955 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Dan... |
OMIM:614643 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia |
ORPHA:3301 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Priapism, Hypertension, Abnorm... |
ORPHA:139417 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Craniopharyngioma |
|
Hypogonadotropic hypogonadism, Proportionate short stature, Myocardial infarction, Postnatal grow... |
ORPHA:54595 |
Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly |
OMIM:616260 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal cardiac ... |
ORPHA:2166 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Hydrocephalus, Recurrent tonsillitis, Atri... |
ORPHA:581 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Hydrocephalus, Abnormality of the lymphatic system, Abnormal morphol... |
ORPHA:538 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Postnatal growth retardation, Hydrocephalus, Hypopla... |
OMIM:605627 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Short stature, Hypospadias, Cryptorchidism, Colpocephaly, Penile hy... |
OMIM:620083 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, Lateral ventricle dilat... |
OMIM:300868 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature |
ORPHA:31 |
Dubowitz Syndrome |
|
Short stature, Hypospadias, Abnormality of neutrophils, Abnormality of female external genitalia,... |
ORPHA:235 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Enlarged cerebellum, Ovarian neoplasm |
ORPHA:65285 |
Weaver Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Lateral ventricle dilatation, Cerebel... |
OMIM:277590 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Cryptorchidism, Lateral ventricle dilatation, Intrauterine gr... |
OMIM:617557 |
Marshall-Smith Syndrome |
|
Short stature, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus... |
OMIM:602535 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Short stature, Ventricular septal defect, Hypospadias, Precocious puberty, Cryp... |
OMIM:194190 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Testicular neoplasm |
ORPHA:199244 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:2318 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Lateral ventricle di... |
ORPHA:457279 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces |
ORPHA:2148 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplastic aortic arch, Aplasia of the vagina, A... |
ORPHA:457284 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Rhizomelia, Short stature, Bicuspid aortic valve, Cardiomegaly, Hydrocephal... |
OMIM:245600 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Hydrocephalus, Pulmonary arterial hypertension, Mitral regurgitation, In... |
ORPHA:314585 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Agenesis of corpus... |
OMIM:301043 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature |
OMIM:224400 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningo... |
OMIM:616546 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Cryptorchidism, Enlarged cerebellum, Colpocephaly, Chordee, Patent foramen ovale |
ORPHA:477993 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Lateral ventricle dilatation, Disproportionate short-limb short stature, Dysgenesis ... |
OMIM:619479 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi... |
OMIM:609192 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia |
ORPHA:15 |
Cryptococcosis |
|
Lymphoid leukemia, Mediastinal lymphadenopathy, Hydrocephalus, Peritonitis, Cirrhosis, Prostatitis |
ORPHA:1546 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Pfeiffer Syndrome |
|
Hydrocephalus, Chiari malformation |
OMIM:101600 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Patent ductus arteriosus, ... |
OMIM:619869 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:353277 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Short stature, Subdural hemorrhage |
OMIM:619714 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Tricuspid regurgitation, Epispadias... |
ORPHA:2556 |
Cardiofaciocutaneous Syndrome |
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Short stature, Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Pulmonic stenosis,... |
ORPHA:1340 |
Cryohydrocytosis |
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Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Chiari type I malformation, Aortic aneurysm |
OMIM:182212 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Hydrocephalus, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Fused labia minora |
OMIM:207410 |
Pfeiffer Syndrome Type 2 |
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Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
Osteogenesis Imperfecta, Type Xvii |
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Intraventricular hemorrhage, Short stature |
OMIM:616507 |
Yunis-Varon Syndrome |
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Short stature, Ventricular septal defect, Hypospadias, Cardiomegaly, Postnatal growth retardation... |
ORPHA:3472 |
Reynolds Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... |
OMIM:613471 |
Opitz-Kaveggia Syndrome |
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Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosu... |
OMIM:305450 |
Costello Syndrome |
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Short stature, Ventricular septal defect, Hydrocephalus, Enlarged cerebellum, Mitral valve prolap... |
OMIM:218040 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Hydrocephalus, Stroke, Ventriculomegaly |
ORPHA:395 |
Vacterl With Hydrocephalus |
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Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphol... |
ORPHA:3412 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Limb Body Wall Complex |
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Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Short stature, Ventricular septal defect, Premature thelarche, Autoimmune throm... |
OMIM:147920 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Prominent superficial veins, Cerebellar vermis hypoplasia, Short stature, B... |
OMIM:612289 |
Fraser Syndrome 3 |
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Hypoplasia of penis, Small scrotum, Hydrocephalus, Stillbirth, Ascites |
OMIM:617667 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus... |
OMIM:616682 |
Otopalatodigital Syndrome Type 2 |
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Encephalocele, Abnormal heart valve morphology, Hypospadias, Myelomeningocele, Hydrocephalus, Abn... |
ORPHA:90652 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Cerebellar vermis hypoplasia, Hypogonadotropic hypog... |
ORPHA:79318 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Alexander Disease |
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Sudden cardiac death, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Hypertension, Hypot... |
ORPHA:58 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Thoracic aortic aneurysm, Postnatal growth retardation, Hydrocephalus, Mitral valve prolapse, Asc... |
ORPHA:536467 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... |
ORPHA:293725 |
Constricting Bands, Congenital |
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Ectopia cordis |
OMIM:217100 |
Kabuki Syndrome |
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Hypoplasia of penis, Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalu... |
ORPHA:2322 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
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Hydrocephalus, Abnormal heart morphology |
OMIM:239300 |
Mend Syndrome |
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Short stature, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, D... |
ORPHA:401973 |
Monosomy 9Q22.3 |
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Ovarian fibroma, Hydrocephalus, Cardiac fibroma, Chiari malformation, Ventriculomegaly |
ORPHA:77301 |
Prader-Willi Syndrome Due To Translocation |
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Short stature, Hypogonadotropic hypogonadism, External genital hypoplasia, Patent ductus arterios... |
ORPHA:177907 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Growth delay, Hydrocephalus, Short stature, Telangiectasia of the skin |
OMIM:616007 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... |
ORPHA:268810 |
Basal Cell Nevus Syndrome 2 |
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Hydrocephalus |
OMIM:620343 |
Mycophenolate Mofetil Embryopathy |
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Agenesis of corpus callosum, Hydrocephalus, Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
Chromosome 17P13.1 Deletion Syndrome |
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Hydrocele testis, Hydrocephalus, Spina bifida |
OMIM:613776 |
Crouzon Syndrome |
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Hydrocephalus, Dysgerminoma |
OMIM:123500 |
Oeis Complex |
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Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genitalia, female, Hydrocephalus, Cryptorch... |
OMIM:258040 |
Cousin Syndrome |
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Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Disproportionate short stature, Ambiguous... |
OMIM:260660 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Rhizomelia, Bilobate gallbladder, Ventricular septal defect, Hypospadia... |
OMIM:261540 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Bifid scrotum, Elevated hepatic transaminase, Aortic regurgitation, Bicuspid aortic valve, Ventri... |
OMIM:619475 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Arteriosclerosis, Hydrocephalus, Short stature |
ORPHA:220295 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypo... |
OMIM:312870 |
Iniencephaly |
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Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Postnatal growth... |
OMIM:268300 |
Mend Syndrome |
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Short stature, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:300960 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Atrial septal defect, Transient ischemic attack, Proportionate short stature,... |
ORPHA:500150 |
Osteopathia Striata With Cranial Sclerosis |
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Ventricular septal defect, Short stature, Hydrocephalus, Partial agenesis of the corpus callosum,... |
OMIM:300373 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse |
OMIM:104350 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus |
ORPHA:626 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
Laurin-Sandrow Syndrome |
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Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Lenz-Majewski Hyperostotic Dwarfism |
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Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Epispa... |
ORPHA:2658 |
Helsmoortel-Van Der Aa Syndrome |
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Ventriculomegaly, Short stature, Cryptorchidism, Heart murmur, Abnormal heart morphology, Mitral ... |
OMIM:615873 |
Peters Plus Syndrome |
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Short stature, Rhizomelia, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hydrocephal... |
ORPHA:709 |
Achondroplasia |
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Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
Hajdu-Cheney Syndrome |
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Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct... |
OMIM:102500 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Hydrocephalus, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Baller-Gerold Syndrome |
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Severe short stature, Short stature, Anomalous splenoportal venous system, Hydrocephalus, Abnorma... |
OMIM:218600 |
Fraser Syndrome 1 |
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Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal heart morph... |
OMIM:219000 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Lateral ventricle dilatation |
OMIM:607485 |
Holoprosencephaly 9 |
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Short stature, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosen... |
OMIM:610829 |
Acrofacial Dysostosis 1, Nager Type |
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Ventricular septal defect, Short stature, Aqueductal stenosis, Hydrocephalus, Patent ductus arter... |
OMIM:154400 |
Mohr Syndrome |
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Hydrocephalus, Short stature |
OMIM:252100 |
Raine Syndrome |
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Neonatal death, Hydrocephalus, Short stature |
OMIM:259775 |
Wiedemann-Rautenstrauch Syndrome |
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Prominent scalp veins, Short stature, Hypospadias, Secundum atrial septal defect, Cryptorchidism,... |
OMIM:264090 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... |
OMIM:610828 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Cerebellar atrophy, Lateral ventricle dilatation, Short stature |
OMIM:618367 |
Congenital Disorder Of Glycosylation, Type Iim |
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Hypertension, Lateral ventricle dilatation, Cerebellar hypoplasia, Atrial septal defect, Intraute... |
OMIM:300896 |
Basal Cell Nevus Syndrome 1 |
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Ovarian fibroma, Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carci... |
OMIM:109400 |
Neurofibromatosis Type 1 |
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Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Arterial stenosis, Chronic myel... |
ORPHA:636 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal external... |
OMIM:607872 |
Fetal Akinesia Deformation Sequence 1 |
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Cryptorchidism, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Intrauterine growth retardation |
OMIM:208150 |
Hypoplasminogenemia |
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Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
6Q Terminal Deletion Syndrome |
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Colpocephaly, Hypospadias, Cerebellar hypoplasia, Phimosis |
ORPHA:75857 |
Wiedemann-Rautenstrauch Syndrome |
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Prominent scalp veins, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism,... |
ORPHA:3455 |
Distal 22Q11.2 Microduplication Syndrome |
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Tricuspid regurgitation, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus ... |
ORPHA:261337 |
Neurofibromatosis, Type I |
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Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis |
OMIM:162200 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Hydrocephalus, Cystocele, Cryptorchidism, ... |
ORPHA:322 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Short stature, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Anemia |
ORPHA:3042 |
Alobar Holoprosencephaly |
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Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... |
ORPHA:220386 |
Scalp-Ear-Nipple Syndrome |
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Short stature, Cardiac myxoma, Congestive heart failure, Hypertension, Lateral ventricle dilatati... |
OMIM:181270 |
Microphthalmia With Limb Anomalies |
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Venous insufficiency, Cryptorchidism, Hydrocephalus, Short stature |
ORPHA:1106 |
Choreoacanthocytosis |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... |
ORPHA:2388 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar cyst |
OMIM:253280 |
Campomelic Dysplasia |
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Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Abnormal heart morphology, Sex rever... |
OMIM:114290 |
Floating-Harbor Syndrome |
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Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Atrial septal defect, Mesocardia |
ORPHA:2044 |
Otopalatodigital Syndrome, Type Ii |
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Short stature, Hypospadias, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydroceph... |
OMIM:304120 |
Focal Dermal Hypoplasia |
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Short stature, Cryptorchidism, Hydrocephalus, Myelomeningocele, Telangiectasia, Clitoral hypoplas... |
OMIM:305600 |
Floating-Harbor Syndrome |
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Atrial septal defect, Cryptorchidism, Mesocardia |
OMIM:136140 |
Genitopatellar Syndrome |
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Small scrotum, Ventricular septal defect, Enlarged labia minora, Cryptorchidism, Colpocephaly, La... |
OMIM:606170 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Short stature, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve ... |
ORPHA:363700 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus, Abnormal cerebellum morphology |
ORPHA:637 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
Split Cord Malformation |
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Hypospadias, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocep... |
ORPHA:573278 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Coar... |
OMIM:164210 |