Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Cleft palate, Polycys... |
OMIM:613885 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Giant platelets, Neutrophi... |
OMIM:155100 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Ventriculomegaly, Astrocytosis |
OMIM:611087 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Dandy-Walker malformation, Hepatomegaly, Portal... |
OMIM:208540 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... |
OMIM:231200 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Congen... |
ORPHA:182050 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperpl... |
ORPHA:60026 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... |
OMIM:608836 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen... |
OMIM:249000 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Abnormal h... |
OMIM:214110 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Cleft palate, Abnormal l... |
ORPHA:1988 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pe... |
ORPHA:314588 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi... |
OMIM:615993 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... |
OMIM:145001 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive |
ORPHA:26 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc... |
OMIM:608776 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Gastroesophageal reflux, Tetralogy of Fallot |
ORPHA:250994 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:619302 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, High palate, Atrial septal defect, Intrahepatic biliar... |
OMIM:614866 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Bicornuate uterus, Pulmon... |
OMIM:263210 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronchiectasis, Gastric varix, Chron... |
OMIM:613490 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... |
OMIM:614859 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Central Precocious Puberty In Male |
|
Astrocytoma, Abnormality of the testis size, Hydrocephalus, Hypothalamic hamartoma, Optic nerve g... |
ORPHA:649929 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy |
ORPHA:99976 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left... |
OMIM:615524 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Cleft palate, Macroglossia... |
ORPHA:261290 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Prostate cancer, Neutropenia, Hepatospleno... |
ORPHA:158057 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Diencephalic Syndrome |
|
Hydrocephalus, Cachexia, Decreased body weight |
ORPHA:1672 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, A... |
OMIM:154230 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of t... |
ORPHA:2470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic r... |
OMIM:613730 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus, Vacuolate... |
OMIM:269920 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:26791 |
Sporadic Creutzfeldt-Jakob Disease |
|
Increased CSF protein concentration, Gliosis, Astrocytosis |
ORPHA:204 |
Prune Belly Syndrome |
|
Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dyspla... |
ORPHA:2970 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Abnormal lung lobation, Hypoplasia of the thymus, Hypocalcemia, Abnormality of... |
ORPHA:567 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Abnormalit... |
ORPHA:1834 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Increased mean platelet volume, Cryptorchidism, Abnormal cardiac septum morphology, ... |
OMIM:616737 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut... |
ORPHA:281090 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal repro... |
ORPHA:1666 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ventriculomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Hydrocephalus, Lymphade... |
ORPHA:858 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty, Abnormal heart morphology |
OMIM:233270 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Pulmonary hypo... |
OMIM:614091 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Hepatic c... |
ORPHA:400 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... |
OMIM:613101 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... |
OMIM:235200 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Failure to thrive, Astrocytosis |
ORPHA:225154 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Retrograde ejaculation,... |
ORPHA:49041 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney ... |
OMIM:619879 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation |
OMIM:300982 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Renal cortical adenoma, Pa... |
ORPHA:97290 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm... |
ORPHA:1926 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Cryptorchidism, Thrombocytopenia, Giant platelets, Left ventricular hypertrophy, Anemia |
OMIM:611209 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Recurrent respiratory infections, Median cleft palate, Hepatomegaly |
ORPHA:2432 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Abnormal lung lobation, High palate, Abnormality of the uterus, Ab... |
ORPHA:99776 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Decreased body weight |
OMIM:619420 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Failure t... |
OMIM:616034 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Polycystic kidney dysplasia, Hep... |
OMIM:173900 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... |
OMIM:613845 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea... |
OMIM:113650 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Diabetes melli... |
ORPHA:2237 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Crypto... |
ORPHA:85284 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-reactive protein c... |
ORPHA:54251 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age |
OMIM:618302 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... |
ORPHA:75234 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Obesity |
ORPHA:141333 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Spleno... |
ORPHA:64743 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Abnormal lung lobation, Gastroesophageal reflux, Atrial ... |
ORPHA:2538 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc... |
ORPHA:100083 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym... |
OMIM:619126 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Left ventricular hypertrophy, Microphthalmia... |
ORPHA:335 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... |
OMIM:620010 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Pancreatic... |
ORPHA:2869 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
H Syndrome |
|
Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Diabetes mellitus, Mala... |
ORPHA:168569 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Intestinal malrotation, Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperech... |
OMIM:617866 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia |
OMIM:616176 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Mirage Syndrome |
|
Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Acha... |
OMIM:617053 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Abnormali... |
ORPHA:3376 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena... |
OMIM:613390 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dysplasia, Nephronophth... |
OMIM:184260 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Partial agenesis of the corpus callosum, Cerebellar gliosis, Increased... |
ORPHA:79243 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Intesti... |
OMIM:263520 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal... |
ORPHA:1166 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Obesity |
ORPHA:2183 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Abnormal sperm motility, Male infertility, Abnormal atrial arra... |
ORPHA:244 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Inherited Creutzfeldt-Jakob Disease |
|
Increased CSF protein concentration, Astrocytosis |
ORPHA:282166 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... |
ORPHA:96149 |
Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Cachexia |
ORPHA:363717 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ... |
OMIM:607616 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Hydrocephalus, Horsesho... |
OMIM:218350 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice... |
ORPHA:381 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Pancreatic endocrine... |
ORPHA:805 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... |
OMIM:603552 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Renal cyst, Increased total bilirubin |
OMIM:174050 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Ventriculomegaly, Cleft palate |
OMIM:616570 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Occipital meningocele, Proteinuria, Polyuria, Esophageal ... |
OMIM:243910 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno... |
OMIM:602390 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco... |
OMIM:232700 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Polycystic k... |
OMIM:616546 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, High palate, Hypogonadism |
ORPHA:2528 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp... |
OMIM:612526 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Ambiguous... |
OMIM:613091 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ab... |
ORPHA:397596 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevat... |
OMIM:619644 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Gracile Bone Dysplasia |
|
Asplenia, Hydrocephalus, Hypoplastic spleen, Hypocalcemia, Aniridia, Microphthalmia, Micropenis, ... |
OMIM:602361 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... |
ORPHA:2357 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Ventricular septal defect, Elevated circulating cre... |
OMIM:614576 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:613313 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H... |
OMIM:616222 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Abnormally large globe, Cryptorchidism, Pancreatic lymph... |
ORPHA:1655 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal ... |
OMIM:618494 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Pelv... |
OMIM:601186 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Pulmonic st... |
OMIM:222470 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp... |
ORPHA:274 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Cryptorchidism, Increased blood ure... |
ORPHA:90321 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Esopha... |
ORPHA:77298 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Xk Aprosencephaly Syndrome |
|
Abnormal external genitalia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Ana... |
ORPHA:3469 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, High, narrow palate, Abnormality of the ... |
ORPHA:3378 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Cleft palate, Transposition of the great arte... |
OMIM:231060 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Cleft palate... |
OMIM:311200 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Protein-losing ... |
OMIM:602579 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Ectopic kidney, Abnormality of the u... |
ORPHA:887 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Recurrent urinary tract infections, Ventricul... |
OMIM:609029 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Ventricular septal defect, Decreased response to growth hormone stimul... |
OMIM:220210 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Opt... |
OMIM:300514 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, High palate, Gastroesophageal reflux, Polyc... |
OMIM:606232 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... |
OMIM:618935 |
3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, High, narrow palate, Abnormal tricuspid valve morphology... |
ORPHA:7 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Hepatic fibrosis, Hepatic steat... |
ORPHA:264580 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Hypospadias, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Re... |
OMIM:102500 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypoplasi... |
OMIM:248700 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Dandy-Walker malformation, Hypospadias, Aganglionic megacolon, Inte... |
ORPHA:2059 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Small for gestational age, Obesity |
ORPHA:254516 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Hydronephrosis, Anal a... |
ORPHA:195 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
Coach Syndrome 1 |
|
Encephalocele, Hepatomegaly, Occipital encephalocele, Unilateral renal agenesis, Portal hypertens... |
OMIM:216360 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Thrombocytopenia, Jaundice, Aplasia/Hypopl... |
ORPHA:290 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundic... |
OMIM:214900 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperinsulinemia, ... |
ORPHA:79237 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity |
OMIM:601794 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... |
ORPHA:83469 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Ventriculomegaly, Anophth... |
ORPHA:261344 |
Pleural Mesothelioma |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Lymphadenopathy, Dysphagia, P... |
ORPHA:50251 |
Joubert Syndrome 37 |
|
Decreased testicular size, Hepatomegaly, Cryptorchidism, High palate, Microphthalmia, Micropenis,... |
OMIM:619185 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy |
ORPHA:42642 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism, Ventriculomegaly |
ORPHA:487825 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Hepatomegaly, Hypertriglyceridemia, Aplastic anemia, Pancytopen... |
OMIM:300635 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Duodenal stenosis, Abno... |
ORPHA:2547 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genita... |
OMIM:602450 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia, Dandy-Walker m... |
OMIM:164180 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Pneumonia, Increas... |
OMIM:613179 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Epididymitis, Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Re... |
OMIM:620282 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Basal ganglia gliosis |
OMIM:607596 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Increased mean platelet volume, Abnormality of the endocrine system, Abnormal heart ... |
ORPHA:487796 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Cryptorchidism, Enlarged sylvian cistern, External genital hypoplasia |
OMIM:600118 |
Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration |
OMIM:245200 |
Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Asplenia, Urethral atresia, Dandy-Walker malformation, Access... |
ORPHA:564 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Glioma, Hypothalamic hamartoma |
OMIM:241800 |
Hardikar Syndrome |
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Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
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Hydrocephalus |
ORPHA:83473 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... |
OMIM:274150 |
Immunodeficiency 27A |
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Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Enlarged mesenteric lymph node, Hepatospl... |
OMIM:209950 |
Pseudotrisomy 13 Syndrome |
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Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Adrenal hypoplasia, Compl... |
OMIM:264480 |
Williams-Beuren Region Duplication Syndrome |
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Small for gestational age, Cryptorchidism, Hydrocephalus, Failure to thrive, Ventriculomegaly |
OMIM:609757 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
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Hydrocephalus |
ORPHA:1516 |
Heme Oxygenase 1 Deficiency |
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Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio... |
OMIM:614034 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Meckel Syndrome, Type 2 |
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Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile d... |
OMIM:603194 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
Crouzon Syndrome With Acanthosis Nigricans |
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Hydrocephalus |
OMIM:612247 |
Pierpont Syndrome |
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Microphthalmia, Cryptorchidism, Micropenis |
OMIM:602342 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cho... |
OMIM:615630 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
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Hydrocephalus |
OMIM:615599 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Pneumonia... |
ORPHA:436159 |
Harderoporphyria |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase... |
OMIM:618892 |
Fanconi Anemia, Complementation Group F |
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Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Thrombocytopeni... |
OMIM:603467 |
Developmental And Epileptic Encephalopathy 1 |
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Microphthalmia, Micropenis, Ventriculomegaly, Dysphagia |
OMIM:308350 |
Tetraamelia-Multiple Malformations Syndrome |
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Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Abnormal lung... |
ORPHA:3301 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Autoimmun... |
OMIM:616100 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
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Hydrocephalus |
ORPHA:397951 |
Lathosterolosis |
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Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikil... |
OMIM:607330 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Nephrotic Syndrome, Type 11 |
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Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Glycogen Storage Disease Ixa1 |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Genitopalatocardiac Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m... |
ORPHA:2075 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Renal Tubular Dysgenesis |
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Renotubular dysgenesis, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephrop... |
ORPHA:3033 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:240500 |
Orthostatic Hypotension 1 |
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Reduced circulating prolactin concentration, Increased blood urea nitrogen, Retrograde ejaculatio... |
OMIM:223360 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
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Lateral ventricle dilatation |
OMIM:617668 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lym... |
OMIM:235255 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Hypospadias, Renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil... |
ORPHA:79303 |
Emanuel Syndrome |
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High palate, Gastroesophageal reflux, Atrial septal defect, Micropenis, Bifid uvula, Dandy-Walker... |
ORPHA:96170 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
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Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Pallister-Hall Syndrome |
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Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Lateral ventricle dilatation |
OMIM:618890 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Lateral ventricle dilatation |
OMIM:618330 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Hydrocephalus, Ren... |
OMIM:210710 |
Pentalogy Of Cantrell |
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Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
6P22 Microdeletion Syndrome |
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Hydrocephalus |
ORPHA:251046 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Fanconi Anemia, Complementation Group I |
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Ventricular septal defect, Decreased response to growth hormone stimulation test, Optic nerve hyp... |
OMIM:609053 |
Alg2-Cdg |
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Lateral ventricle dilatation |
ORPHA:79326 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Elevated circulating creatine kinase concentration, Hydrocephalus, Macroglossia, Cardiomyopathy, ... |
OMIM:613155 |
Microphthalmia-Brain Atrophy Syndrome |
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Lateral ventricle dilatation |
ORPHA:77299 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Lateral ventricle dilatation, Gliosis |
OMIM:221770 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8... |
ORPHA:911 |
Lysinuric Protein Intolerance |
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Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Meckel Syndrome, Type 10 |
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Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Malformation of the hepatic ducta... |
OMIM:614175 |
Chiari Malformation Type Ii |
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Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Nephronophthisis 20 |
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Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Fanconi Anemia, Complementation Group D2 |
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Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Cry... |
OMIM:227646 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... |
OMIM:225790 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia |
OMIM:615863 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Rena... |
ORPHA:2166 |
Meckel Syndrome, Type 6 |
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Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Hydrocephalus, Bilobed ... |
OMIM:612284 |
Nasu-Hakola Disease |
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Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Congenital Generalized Lipodystrophy |
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Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... |
ORPHA:528 |
Rere-Related Neurodevelopmental Syndrome |
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Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Gastroesophage... |
ORPHA:494344 |
Indomethacin Embryofetopathy |
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Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Hogue-Janssen Syndrome 2 |
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Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
Lymphangioleiomyomatosis |
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Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Renal neop... |
ORPHA:538 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Vag... |
OMIM:619318 |
Ornithine Transcarbamylase Deficiency |
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Splenomegaly, Pyloric stenosis, Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Smith-Lemli-Opitz Syndrome |
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Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, H... |
OMIM:270400 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Acrorenal-Mandibular Syndrome |
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Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Narrow palate, Bicorn... |
OMIM:200980 |
Follicular Lymphoma |
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Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... |
ORPHA:545 |
Paroxysmal Nocturnal Hemoglobinuria |
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Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic... |
ORPHA:447 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Pyloric stenosis, Cleft... |
ORPHA:96184 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal cyst, Atrial septal defect,... |
OMIM:229850 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Roberts Syndrome |
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Cryptorchidism, Thrombocytopenia, Long penis, Cleft palate, High palate, Polycystic kidney dyspla... |
ORPHA:3103 |
Thomas Syndrome |
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Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Hepatomegaly, Malabsorption, Myocarditis... |
ORPHA:3452 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Cofs Syndrome |
|
Microphthalmia, Hypogonadism |
ORPHA:1466 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Cat Eye Syndrome |
|
Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Total anomalous pulmonary venous re... |
OMIM:115470 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Intestinal bleeding, Interstitial cardiac fib... |
ORPHA:90291 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
X-Linked Parkinsonism-Spasticity Syndrome |
|