Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Abnormal cil... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Neonat... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 23 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Productive cough, R... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Ciliary Dyskinesia, Primary, 25 |
|
Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Chronic pulmonary obstruction, Rec... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Situs inversus to... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Situs inversus totalis, Cough, Dextrocardia,... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 18 |
|
Rhinitis, Decreased nasal nitric oxide, Abdominal situs ambiguus, Respiratory insufficiency due t... |
OMIM:614874 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Chro... |
OMIM:616481 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Situs inversus totalis, Ciliary dyskinesia |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... |
OMIM:615500 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Heterotaxy, Situs inversus totalis |
OMIM:601086 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Chronic rhi... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal ciliary motility, R... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Rhinorrhea, Cough, D... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Congenitally corrected transposition of the great arteries, Decrea... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Cough,... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Dextrocardia, Sinusitis, Situs inversus tot... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Bronchiectasis, Chronic rhinitis, Rhinorrhea, Dextrocardia, Situs inversus totali... |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Immotile ... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... |
OMIM:612650 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Decreased nasal nitric oxide, Chronic sinusitis, Situs inversus totalis, Cough, Dextrocardia, Abd... |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 5 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Abdominal situs ambiguus, Bronchiectasis, Productive cough, Chronic... |
OMIM:617092 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 46 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Recurrent pneumonia, Reduced ... |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 15 |
|
Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Rhinorrhea, Cough, Situs inversus totalis... |
OMIM:613808 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia, Respiratory distress, Situs inversus totalis, Upper airway obstruction |
OMIM:612776 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis |
OMIM:620032 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Diabetes mellitus, Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Decreased nasal nitric oxide, Polysplenia, Chronic sinusit... |
OMIM:619608 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic rhinit... |
OMIM:612649 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Malformation of the hepatic duct... |
OMIM:615415 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Atrioventricular canal defect, Double outlet right ventricle, Transposition of the grea... |
OMIM:605376 |
Primary Ciliary Dyskinesia |
|
Asplenia, Double outlet right ventricle, Abnormal sperm motility, Ventriculomegaly, Abnormal infe... |
ORPHA:244 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Transposition of the gre... |
OMIM:614779 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen... |
OMIM:208540 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus, Male infertility, Situs inversus totalis, Absent outer dyn... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:610852 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Cough, Ciliary dyskinesia |
OMIM:616726 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypogonadism |
OMIM:615985 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Abnormal respiratory system physiology, Chronic rhinitis, Sinusitis, Ciliary dysk... |
OMIM:242670 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... |
OMIM:614034 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Sideroblastic anemia, Atrial septal defect, Thiamine-re... |
OMIM:249270 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance, Gout, Osteoporosis |
OMIM:610947 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Hydrocepha... |
ORPHA:1666 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura, Short stature |
ORPHA:3204 |
Nephronophthisis 16 |
|
Periportal fibrosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Cholestasis, Aortic val... |
OMIM:615382 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly |
ORPHA:1759 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations |
OMIM:116860 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Spinal dysraphism, Encephalocele, Ventricular ... |
ORPHA:1908 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Choroid plexus cyst, Atrial septal... |
OMIM:267010 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... |
OMIM:604213 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Right atrial ... |
OMIM:306955 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Abnormal bleeding, Bruising susceptibility,... |
OMIM:185070 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Infertility, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, Hepatomega... |
OMIM:602390 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Young Syndrome |
|
Decreased fertility, Abnormality of the pancreas, Obstructive azoospermia |
ORPHA:3471 |
Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus, Venous insufficiency, Polycystic ovaries, Thymus hype... |
ORPHA:2969 |
Gracile Bone Dysplasia |
|
Asplenia, Short stature, Hydrocephalus, Ascites, Hypoplastic spleen, Micropenis |
OMIM:602361 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Sideroblastic anemia, Communicating hydrocephalus, Hypochromic microcytic anem... |
OMIM:616084 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Asplenia, Double outlet right ventricle, Unbalanced atrioventricular ca... |
OMIM:619657 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Hypertension, Thrombocytopenia, Agenesis of corpus callosum |
OMIM:166990 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Heterotaxy, Visceral, 4, Autosomal |
|
Midline liver, Atrioventricular canal defect, Ventricular septal defect, Transposition of the gre... |
OMIM:613751 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia, Primary hypothyroidism |
OMIM:225050 |
Hec Syndrome |
|
Vaginal hydrocele, Endocardial fibroelastosis, Communicating hydrocephalus, Arrhythmia, Cardiomyo... |
ORPHA:2119 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Abnormal cerebellar vermis morphology, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:2703 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, Abnormal fallopian tube morphology... |
ORPHA:99776 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Communicating hydrocephalus, Tetralo... |
ORPHA:2184 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Atrioventricular canal defect, Ventricular septal defect, Cryptorchidism, Abdominal sit... |
OMIM:619123 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Hypoglycorrhachia, Short stature, Jaundice, Communi... |
ORPHA:168577 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Hydrocephalus, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly,... |
OMIM:610333 |
Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... |
OMIM:618734 |
Lissencephaly 4 |
|
Short stature, Cerebellar hypoplasia, Growth delay, Agenesis of corpus callosum, Colpocephaly |
OMIM:614019 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Myelomeningocele, Aplasia of posterior communicating arte... |
OMIM:613686 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Thrombocytopenia, Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Ciliary dyskinesia |
ORPHA:1882 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambigu... |
OMIM:270100 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:615219 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Hypertension, Congestive heart failure, Hepatic steatosis, Oligospermia... |
OMIM:615703 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Ventriculomegaly, Enlarged kidney, Splenic cyst, Communicating hydrocep... |
OMIM:618188 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Brain Small Vessel Disease 2 |
|
Growth delay, Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Ambiguous genitalia, Urethral atresia, Encephalocele, Anencephaly, Hy... |
ORPHA:564 |
Icf Syndrome |
|
Anemia, Short stature, Communicating hydrocephalus, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Afibrinogenemia, Congenital |
|
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... |
OMIM:202400 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1861 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Rectovaginal fistula... |
ORPHA:1780 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Hypoplastic spleen, Respiratory distress, Atrial septal defect |
ORPHA:89844 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Marfanoid Habitus With Situs Inversus |
|
Mitral valve prolapse, Situs inversus totalis, Obstructive sleep apnea, Pulmonic stenosis |
OMIM:609008 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Impotence, Hepatocellular carcinoma, Azoospermia, Elevated hepatic tra... |
OMIM:235200 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of penis, Holoprosencephaly, Situs inversus tota... |
ORPHA:990 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Subdural... |
ORPHA:25 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Meckel Syndrome, Type 1 |
|
Asplenia, Chiari malformation, Ventriculomegaly, Ambiguous genitalia, female, Abnormal cardiac se... |
OMIM:249000 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia |
ORPHA:1538 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Mitral valve prolapse, Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Atrioventricular canal defect, Chiari malformation, Ventriculomegaly, Pulmonary artery ... |
OMIM:265380 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Situs inversus totalis, Respiratory failure |
OMIM:602088 |
Meacham Syndrome |
|
Patent ductus arteriosus, Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal de... |
ORPHA:3097 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, ... |
OMIM:617397 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, Apnea, Res... |
ORPHA:2257 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Stillbirth, Abnormality of... |
ORPHA:85212 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia, Hydrocephalus |
OMIM:209970 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Neonatal death, Hepatomegaly, Colpocephaly |
OMIM:614870 |
Cole-Carpenter Syndrome 1 |
|
Short stature, Hydrocephalus, Communicating hydrocephalus |
OMIM:112240 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Ambiguous genitalia, Abnormal aortic morphology, Encephalocele... |
ORPHA:991 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
Hemophilia A |
|
Intracranial hemorrhage, Splenic rupture, Bleeding with minor or no trauma, Oral cavity bleeding,... |
ORPHA:98878 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Jaundice, Hypertension, Situs inversus totalis, Dextrocardia, Hepatomegaly, Hepatic cysts |
OMIM:613095 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Anterior hypopituitarism, Dextrocardia, Cryptorchidism |
ORPHA:2863 |
Glanzmann Thrombasthenia 1 |
|
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... |
OMIM:273800 |
Mucopolysaccharidosis Type 2 |
|
Abnormal aortic morphology, Abnormal mitral valve morphology, Short stature, Enlarged tonsils, Co... |
ORPHA:580 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Atrioventricular canal defect, Pulmonary valve atresia, Pulmonary a... |
ORPHA:210122 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Secundum atrial septal defect, Situs inversus totalis, Respiratory distress |
OMIM:202650 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Congenital Toxoplasmosis |
|
Anemia, Ventriculomegaly, Ascites, Jaundice, Hydrocephalus, Elevated hepatic transaminase, Lympha... |
ORPHA:858 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Short stature, Decreased testicular si... |
ORPHA:280679 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Growth dela... |
OMIM:615234 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia |
OMIM:123155 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphadenopathy, Abnor... |
ORPHA:3226 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:404 |
Familial Cervical Artery Dissection |
|
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... |
ORPHA:36382 |
Shprintzen-Goldberg Syndrome |
|
Chiari malformation, Ventriculomegaly, Mitral valve prolapse, Communicating hydrocephalus, Abnorm... |
ORPHA:2462 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corpus... |
OMIM:619302 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... |
ORPHA:399805 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Cerebellar hemisphere hypoplasia, Ventriculomegaly, Cerebellar hypoplasia, Decreased testicular s... |
OMIM:615287 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Decreased testic... |
OMIM:300845 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Ventricular septal defect, Atrial septal defect, Dextrocardia, Cryptorchidism, Neutropenia |
OMIM:618067 |
Mirage Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Petechiae, Shawl scrotum, Decreased testicular size... |
OMIM:617053 |
Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Abnormal cerebellum morphology, Cerebral hemorrhage, ... |
ORPHA:97339 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:619702 |
Congenital Factor Xiii Deficiency |
|
Hepatic failure, Myeloid leukemia, Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemo... |
ORPHA:331 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe... |
OMIM:220200 |
Alpha-Mannosidosis, Infantile Form |
|
Chiari malformation, Communicating hydrocephalus, Pancytopenia, Hepatosplenomegaly, Aortic regurg... |
ORPHA:309282 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:475 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia, Hypogonadism |
OMIM:615994 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyp... |
ORPHA:90065 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Congenital Factor Ii Deficiency |
|
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... |
ORPHA:325 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Hepatic failure, Ambiguou... |
ORPHA:261519 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology, Intracranial hemorrhage |
ORPHA:398189 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, Dandy-Walker malfor... |
OMIM:607091 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Hydrocephalus, Elevated hepatic transaminase, Hypertension, Portal fibrosis, Co... |
OMIM:619111 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortical adenoma, Dex... |
ORPHA:403 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Growth delay, Cerebellar atrophy, I... |
ORPHA:488635 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Asplenia, Chronic active hepatitis, Premature ovarian insufficiency, Male hy... |
OMIM:240300 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Adrenal hype... |
ORPHA:251274 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocep... |
ORPHA:2461 |
Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Asplenia, Patent foramen ovale, Cerebellar hypoplasia, Bilateral crypto... |
OMIM:617746 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal ... |
ORPHA:369929 |
Severe Hemophilia A |
|
Anemia, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising ... |
ORPHA:169802 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Cer... |
OMIM:618291 |
Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus |
OMIM:129850 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Abnormal bleeding, Hepatomegaly |
OMIM:300884 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Later... |
OMIM:619534 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Masa Syndrome |
|
Short stature, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:303350 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Short stature, Cerebellar vermis hypoplasia |
ORPHA:1532 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Secondary amenorrhea, Elevated hepatic transam... |
OMIM:613313 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Ventricular septal defect, Short stature, Hy... |
OMIM:615630 |
Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... |
ORPHA:465 |
Primary Angiitis Of The Central Nervous System |
|
Abnormal CSF protein concentration, CSF pleocytosis, Transient ischemic attack, Cerebral vasculit... |
ORPHA:140989 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Epid... |
ORPHA:464329 |
Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium... |
OMIM:601186 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Heart block, Hepatomegaly, Thrombocytopenia, Aplastic anemia, Sple... |
ORPHA:398124 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... |
OMIM:617967 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tract abnormality,... |
ORPHA:79301 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Chiari malformation, Ventriculomegaly, Intracr... |
ORPHA:2481 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic fibrosis, Abnormality of the liver, Abnormal cerebellum morphol... |
ORPHA:1505 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Intracranial hemorrhage, Hy... |
OMIM:614424 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att... |
ORPHA:284388 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Short stature, Mild fetal ventriculomegaly, Commu... |
OMIM:619841 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, ... |
OMIM:614480 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, CSF pleocytosis, Intrauterine growth retardation, Hepatomegaly, Increased CSF i... |
OMIM:615010 |
47,Xyy Syndrome |
|
Macroorchidism, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus, Azoospe... |
ORPHA:8 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Hypoch... |
ORPHA:99147 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Ag... |
OMIM:613153 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... |
OMIM:269200 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus, Tetralogy of Fallot, Cryptorchidism |
ORPHA:250994 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Lymphopenia, Stroke |
OMIM:182410 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... |
ORPHA:231160 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Congestive heart failure, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocy... |
OMIM:269920 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... |
ORPHA:136 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Elevated ci... |
OMIM:620010 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, St... |
ORPHA:449285 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Moderate Hemophilia A |
|
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... |
ORPHA:169805 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Cerebellar hypoplasia, Bicuspid aortic valve, Stroke |
OMIM:300049 |
Hereditary Hemorrhagic Telangiectasia |
|
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary... |
ORPHA:774 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neonatal alloimmune t... |
ORPHA:853 |
Ring Chromosome 21 Syndrome |
|
Short stature, Infertility, Azoospermia, Holoprosencephaly, Abnormal heart morphology, Amenorrhea |
ORPHA:1445 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Pneumothorax, Tru... |
ORPHA:185 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hydrocephalus, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin,... |
ORPHA:163596 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Abnormality of the menstrual cycle, Bruising susceptibility, Epistaxis, Thromb... |
ORPHA:721 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... |
ORPHA:31825 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Cirrhosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, ... |
OMIM:614576 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Cach Syndrome |
|
Cerebellar vermis atrophy, Lateral ventricle dilatation, Secondary amenorrhea, Premature ovarian ... |
ORPHA:135 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... |
OMIM:607685 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Chiari malformation, Hydrocephalus, Aortic aneurysm, Cryptorchidism, Fr... |
ORPHA:261102 |
Dengue Fever |
|
Hypotension, Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Ging... |
ORPHA:99828 |
Congenital Hydrocephalus |
|
Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Cerebral hemorrhage, Cerebellar hypoplasia, Hypertension, Leukocytosis, Ca... |
OMIM:618886 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Emphysema, Dextro... |
ORPHA:289 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Ce... |
OMIM:304100 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Aplas... |
ORPHA:3426 |
Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... |
OMIM:613225 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:614830 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
H Syndrome |
|
Facial telangiectasia, Hypogonadism, Short stature, Decreased testicular size, Enlarged kidney, H... |
ORPHA:168569 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hepatosplenomegaly, Hepatomegaly, Cervical lymphadenopathy, Splenomegaly, ... |
OMIM:602782 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Asplenia, Ventricular septal defect, Interrupted aortic arch, Polysplen... |
OMIM:164280 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Micropenis, Communicating hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia |
ORPHA:457359 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Intracran... |
ORPHA:464321 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Short stature, Foam cells with lamellar inclusion bodies, Bone-ma... |
OMIM:607616 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Growth delay |
OMIM:617244 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventriculomegaly, Ventricular septal defect, Short stature, Hydrocephal... |
OMIM:218350 |
Fried Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology |
ORPHA:85335 |
Pseudoaminopterin Syndrome |
|
Asplenia, Patent foramen ovale, Short stature, Hydrocephalus, Cryptorchidism |
ORPHA:221120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, Abnorma... |
OMIM:613155 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Acholic sto... |
OMIM:619868 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Short stature, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutr... |
OMIM:606054 |
Tetraamelia Syndrome 1 |
|
Asplenia, Urethral atresia, Absent external genitalia, Hydrocephalus, Vaginal atresia, Hypoplasia... |
OMIM:273395 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadism, Hydrocephalus, Hypospadias, Delayed puberty, Hypogonadotropic hypogo... |
ORPHA:141333 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Band Heterotopia |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Galactose Epimerase Deficiency |
|
Growth delay, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Cerebellar vermis atrophy, Hepatic failure, Hepatic bridging fibrosis, Hepatome... |
OMIM:616719 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Urethral atresia, Isomerism, Enlarged kidney, Hydrocephalus, Dextr... |
OMIM:314390 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Factor Vii Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... |
OMIM:227500 |
Acquired Purpura Fulminans |
|
Macular purpura, Hepatic failure, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged ... |
ORPHA:49566 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Hypogonadism, Anisopoikilocytosis, Azoosperm... |
ORPHA:300298 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:616531 |
Griscelli Syndrome |
|
Leukopenia, Encephalocele, Short stature, Hepatitis, Jaundice, Hydrocephalus, Abnormality of neut... |
ORPHA:381 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... |
ORPHA:52901 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Partial a... |
OMIM:220220 |
48,Xxyy Syndrome |
|
Ventriculomegaly, Decreased testicular size, Infertility, Hypoplasia of penis, Azoospermia, Hyper... |
ORPHA:10 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa |
OMIM:620103 |
Hemophilia B |
|
Prolonged bleeding after surgery, Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Dela... |
ORPHA:98879 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Patent ductus arteriosus, Anemia, Ventricular septal defect, Short stature, C... |
ORPHA:163979 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Lateral ventricle dilatation, Short stature,... |
OMIM:618330 |
Alpha-Heavy Chain Disease |
|
Anemia, Premature ovarian insufficiency, Lymphadenopathy, Growth delay, Hepatomegaly, Ascites, Sp... |
ORPHA:100025 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Abnormal pattern of respiration, Abnormality of the hypothalamus-pituitary axis, Dextrocardia |
ORPHA:220493 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Cerebellar dysplasia, Ventricular septal defe... |
OMIM:617751 |
Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Cerebral amyloid angiopathy... |
OMIM:605714 |
B4Galt1-Cdg |
|
Cerebellar hypoplasia, Hydrocephalus, Elevated hepatic transaminase, Abnormal bleeding, Hepatomeg... |
ORPHA:79332 |
Ring Chromosome 7 Syndrome |
|
Abnormal cerebellum morphology, Hypogonadism, Ventriculomegaly, Heart murmur, Short stature, Hydr... |
ORPHA:1449 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Hemolytic anemia, Hypogonadism, Short stature, Mitral valve prolapse, H... |
ORPHA:251066 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Ventriculomegaly, Spontaneous, recurrent epistaxis, Hepatosplenomegaly, Thrombocytopenia, Aortic ... |
ORPHA:2072 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Ventriculomegaly, External genital hypoplasia, Decreased testicul... |
ORPHA:99330 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon, Chiari type I malformation, Ventriculomegaly |
ORPHA:401986 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol ... |
OMIM:615830 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
Renpenning Syndrome |
|
Decreased testicular size, Severe short stature, Hypospadias, Growth delay, Heterotaxy |
ORPHA:3242 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Cerebellar malformation, Ventriculomegaly |
ORPHA:324416 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Johanson-Blizzard Syndrome |
|
Anemia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Diabetes mellitus, Dextr... |
ORPHA:2315 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
Meacham Syndrome |
|
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Bicuspid aortic v... |
OMIM:608978 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Polysplen... |
OMIM:614294 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding, Menometrorrhagia |
ORPHA:98880 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Complete atrioventricular canal de... |
OMIM:264480 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Supernumerary nipple, Cryptorchidism |
OMIM:618929 |
Progressive Familial Intrahepatic Cholestasis |
|
Short stature, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Elevated circulating alanine aminotransferase concentration, ... |
OMIM:608836 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Hydrocephalus, Congestive heart failure |
OMIM:300886 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation, Premature ovarian insufficiency |
OMIM:615889 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Dense calcifications in the cerebellar dentate nucleus, Cerebral hemorrhage |
ORPHA:542310 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar dysplasia, Abnormal cerebellum morphology, Ventriculomegaly, Hypoplasia of the pons, C... |
ORPHA:101070 |
Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... |
OMIM:227600 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteroni... |
ORPHA:231580 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... |
ORPHA:99827 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Abnormality of the pancreas, Sp... |
ORPHA:1926 |
Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... |
ORPHA:53719 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocyt... |
OMIM:615631 |
Ataxia-Pancytopenia Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Acute myelomonocytic leukemia, Abnormal macrophage morpholo... |
ORPHA:2585 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Bile duct proliferatio... |
OMIM:607361 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... |
ORPHA:699 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Petechiae, Hepatocellular carcinoma, Elevated hepatic ... |
OMIM:619463 |
Alexander Disease |
|
Abnormal dentate nucleus morphology, Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia |
ORPHA:401815 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus |
ORPHA:2578 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Car... |
OMIM:251000 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Elevated hepatic transaminase, Generalized lymphadenopathy, Hepatosp... |
ORPHA:3260 |
Distal Trisomy 5Q |
|
Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular ... |
OMIM:606003 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus ... |
ORPHA:1528 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... |
OMIM:616828 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Bicornuate uterus, Cerebellar cyst, Azoospermia, Hypoplasia of the uterus |
OMIM:601076 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:618266 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Decreased circulating cortisol level, Increased circulating ACTH level,... |
ORPHA:90790 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Prolonged bleeding time, Hematemesis, Thrombocyto... |
ORPHA:906 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal cerebellum morphology, V... |
ORPHA:370959 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morph... |
ORPHA:93476 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus, Cholestasis, Portal fibrosis |
OMIM:615862 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Short stature, Lateral ventricle dilatation |
OMIM:619420 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Lateral ventricle dilatation, Cryptorchidism |
OMIM:616816 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventriculomegaly, Petechiae, Cerebellar hypoplasi... |
OMIM:251290 |
Triploidy |
|
Meningocele, Ambiguous genitalia, Abnormality of the pancreas, Abnormal cardiac septum morphology... |
ORPHA:3376 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:613677 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Ventricular septal defect, Cerebellar cyst, Cereb... |
ORPHA:79243 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Multiple Sulfatase Deficiency |
|
Ventriculomegaly, Short stature, Hydrocephalus, Hepatomegaly, Increased CSF protein concentration... |
OMIM:272200 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Pancytopenia, Atrial septal defect, Dextrocardia, Hepatomegaly, Thr... |
OMIM:277380 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... |
OMIM:619517 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le... |
OMIM:615954 |
Hypophosphatasia, Infantile |
|
Disproportionate short-limb short stature, Anemia, Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated hepatic transaminase, Dilated cardiomyopath... |
ORPHA:99901 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Arteriosclerosis, Splenomegaly |
ORPHA:75234 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar hemisphere hypoplasia, Hydrocephalus, Cerebellar vermis hypop... |
OMIM:615191 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Chylopericardium, Congestive heart failure, Growth... |
ORPHA:2414 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventriculomegaly, Hypogonadism, Cerebellar hypoplasia, Ventricular sept... |
OMIM:300514 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Short stature, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Primary amenorrhea, Splenomegaly |
OMIM:612526 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Alg2-Cdg |
|
Hepatomegaly, Lateral ventricle dilatation |
ORPHA:79326 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons |
OMIM:615181 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Short stature, Lymphadenopathy, Hepatomegaly, Intrauterine gro... |
OMIM:609981 |
Cerebral Visual Impairment |
|
Hydrocephalus, Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Marden-Walker Syndrome |
|
Dextrocardia, Cryptorchidism |
OMIM:248700 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly |
OMIM:619164 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Lateral ventricle dilatation, Pulmonary artery sling, Septate vagina, Cryptorchidism, C... |
ORPHA:261537 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Leukemia, Ventriculomegaly, Ventricular septal defect |
OMIM:602501 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly |
ORPHA:250972 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Atrial septal defect, Abnormal aortic valve morphology |
ORPHA:261197 |
48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
Aspergillosis |
|
Hepatitis, Intracranial hemorrhage, Eosinophilia, Stroke, Neutropenia |
ORPHA:1163 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... |
ORPHA:158057 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Azoospermia, Male hypo... |
OMIM:228300 |
8P Inverted Duplication/Deletion Syndrome |
|