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 |
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Splenomegaly, Hepatomegaly, Hypertension, Cholestasis |
OMIM:105200 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Short stature, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous g... |
ORPHA:90795 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Non-Functioning Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Positi |