Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplastic corpus callosum |
OMIM:604213 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Encephalocele, Anophthalmia, Pericardial effusion, Enlarged kidney, Polycyst... |
OMIM:613885 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
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 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Astrocytosis, Ventriculomegaly |
OMIM:611087 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Pulmonary... |
OMIM:208540 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Periportal fibrosis, En... |
OMIM:263200 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus |
OMIM:129850 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
Lissencephaly 4 |
|
Agenesis of corpus callosum, Colpocephaly |
OMIM:614019 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Follicular hyperplasia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenop... |
ORPHA:60026 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:303350 |
Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Menorrhagia, Giant platelets, Thrombocytopenia, Impaired ristocetin-induce... |
OMIM:231200 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis |
OMIM:235550 |
Band Heterotopia |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Femoral-Facial Syndrome |
|
Ventriculomegaly, Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Maternal diabetes, Long ... |
ORPHA:1988 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Renal dysplasia, External genital hypoplasia, Stage 5 chronic kidney disease, Renal... |
OMIM:615993 |
Myh9-Related Disease |
|
Menorrhagia, Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased... |
ORPHA:182050 |
Meckel Syndrome, Type 1 |
|
Asplenia, Hypoplasia of the bladder, Ventriculomegaly, Ambiguous genitalia, female, Abnormal card... |
OMIM:249000 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Elevated circulat... |
OMIM:214110 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Primary adrenal ins... |
OMIM:617872 |
Distal Tetrasomy 15Q |
|
Nephroblastoma, High palate, Abnormality of the kidney, Polycystic kidney dysplasia, Hydrocephalu... |
ORPHA:314588 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ventriculomegaly, Renal dysplasia, Elevated circulating creatine kinase concentration, Hepatic ca... |
OMIM:608836 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine morphology, Dys... |
ORPHA:70482 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
1Q21.1 Microduplication Syndrome |
|
Gastroesophageal reflux, Hydrocephalus, Hypospadias, Cryptorchidism, Tetralogy of Fallot |
ORPHA:250994 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Menorrhagia, Thrombocyt... |
OMIM:617443 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Nephroblastoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... |
OMIM:145001 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Ventriculomegaly, Dicarboxylic aciduria, Elevat... |
ORPHA:228308 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... |
OMIM:608776 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Hydrocephalus |
ORPHA:26 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Caroli Disease |
|
Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver abscess, Polycystic ki... |
ORPHA:53035 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Renal tubular atrophy, Abnormal testis morphology, Hepatosplenome... |
ORPHA:85450 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal lung lobation, Pulm... |
OMIM:263210 |
Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, ... |
ORPHA:731 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Hypogonadism |
OMIM:615987 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Hepatomegaly, Cleft palate, Renal cortical m... |
OMIM:614866 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Hyperurice... |
ORPHA:543 |
Caroli Syndrome |
|
Cholangiocarcinoma, Hepatomegaly, Hematemesis, Abnormality of the ductus choledochus, Thrombocyto... |
ORPHA:480520 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
46,Xy Sex Reversal 4 |
|
Hydronephrosis, High palate, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, ... |
OMIM:154230 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Lymphadenopathy, Barrett esophagus, Esophageal carcinoma |
ORPHA:99976 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Gia... |
OMIM:169400 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619302 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Annular pancreas, Abnorm... |
ORPHA:2470 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Bronchiectasis, Hepatocellular ... |
OMIM:613490 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Abnormality of iron homeostasis, Hepatoblastoma, Gastri... |
ORPHA:84064 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventriculomegaly, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney, Microphthalm... |
OMIM:613730 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:608971 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Abnormality of the bladder, Abnormality of the ureter, Intes... |
ORPHA:2970 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Testicular seminoma, Abnormal stomach morphology, Unilateral renal agenesis, Crypto... |
ORPHA:281090 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Hydrocephalus |
ORPHA:1672 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Webbed neck, Abnormality of abdominal... |
ORPHA:1666 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:614120 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Hepatocellular carcinoma, Acute lymphoblastic leukemia, Hepatosplenomegal... |
ORPHA:158057 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Trisomy 17P |
|
High palate, Polycystic kidney dysplasia, Hydrocephalus, Hypoplasia of penis, Macroglossia, Hypop... |
ORPHA:261290 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... |
OMIM:210250 |
Gombo Syndrome |
|
Abnormal heart morphology, Delayed puberty, Microphthalmia |
OMIM:233270 |
Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Increased CSF protein concentration |
ORPHA:204 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Hypoparathyroidism, Ab... |
ORPHA:567 |
Infantile Sialic Acid Storage Disease |
|
High palate, Nephrotic syndrome, Hydrocephalus, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated l... |
OMIM:269920 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Enlarged kidney, Jaundice, Hepatocellular ... |
OMIM:619902 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Obesity, Hydrocephalus, Increased body weight |
ORPHA:759 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia |
OMIM:211890 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, High palate, Polycystic kidney dysplasia, Pulmonary hypoplasia, Renal cyst, Hyp... |
OMIM:614091 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Renal oncocytoma, Papillary renal cell carcinoma, Nodular goiter,... |
ORPHA:97290 |
Congenital Toxoplasmosis |
|
Anemia, Ventriculomegaly, Ascites, Jaundice, Hydrocephalus, Lymphadenopathy, Microphthalmia, Hepa... |
ORPHA:858 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:157 |
Cystic Echinococcosis |
|
Abnormal subpleural morphology, Peritoneal abscess, Abnormality of the pancreas, Abnormality of t... |
ORPHA:400 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:304100 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Elevated circulating acylcarnitine concentration, Polycystic kidney dysplasia, De... |
ORPHA:26791 |
Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Increased mean platelet volume, Hypospadias, Cryptorchidism, ... |
OMIM:616737 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Pneumothorax, Polycystic kidney dysplasia, Pulmonary hypop... |
OMIM:619879 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Igg4-Related Retroperitoneal Fibrosis |
|
Impotence, Psoriasiform dermatitis, Retrograde ejaculation, Acute kidney injury, Normocytic anemi... |
ORPHA:49041 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Abnormality of the pancreas, Ventricular... |
ORPHA:1926 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly |
ORPHA:250972 |
Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Premature ovarian insufficiency, Ascites, Lymphadenopathy, Hepatomegaly, A... |
ORPHA:100025 |
Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Astrocytosis, Basal ganglia gliosis |
ORPHA:225154 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:615559 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism |
OMIM:615982 |
Mosaic Trisomy 9 |
|
Asplenia, Ventriculomegaly, Renal dysplasia, Cleft palate, Endocardial fibroelastosis, Abnormal l... |
ORPHA:99776 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Anophthalmia, Bicornuate uterus, Hypoplastic left atrium, Pulmonary hy... |
OMIM:615524 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Microphthalmia, Hepatomegaly, Median cleft palate |
ORPHA:2432 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Colon cancer, Fol... |
ORPHA:319487 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypospadias, Delayed puberty, Microphthalmia, Hypogonadotropic hypog... |
ORPHA:141333 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Hepatosplenomegaly, Lymp... |
OMIM:613101 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Increased serum iron, Impotence, Hepatocellular carcinoma, Azoospermia, Pleural effusi... |
OMIM:235200 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Polycystic kidney dysplasia, Mitral valve prolapse, Hepatic cysts, Renal ins... |
OMIM:173900 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Renal dysplasia, Pulmonary hypoplasia,... |
ORPHA:3032 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Pu... |
OMIM:231680 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Decreased testicular size, Aga... |
ORPHA:85284 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Giant platelets, Left ventricular hypertrophy, Hypospadias, Cryptorchidism, Thrombocytopenia |
OMIM:611209 |
Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Renal dysplasia, Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Es... |
ORPHA:2538 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Martsolf Syndrome 2 |
|
Decreased body weight, Lateral ventricle dilatation |
OMIM:619420 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... |
ORPHA:2237 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... |
ORPHA:54251 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Polycyst... |
OMIM:113650 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni... |
ORPHA:444463 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Stage 5 chronic kidney disease, Anal atresia, Renal cyst, Abnormal h... |
OMIM:613390 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytopenia, Diabetes mellitus, Increased... |
OMIM:613845 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Gastroesophageal reflux, Abnormality of the pancreas, Polycystic liver... |
ORPHA:2924 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Volvulus, Left ventricular hypertrophy, Sple... |
ORPHA:335 |
Mmep Syndrome |
|
Ventricular septal defect, Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Increased serum serotonin, Neuroendocrine neoplasm, Elevated ... |
ORPHA:100083 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
Triploidy |
|
Meningocele, Ambiguous genitalia, Abnormality of the pancreas, Aplasia/Hypoplasia affecting the e... |
ORPHA:3376 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Hydrocephalus |
OMIM:618302 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Increased serum iron, Abnormality of iron homeostasis, Ventricu... |
OMIM:222470 |
Peutz-Jeghers Syndrome |
|
Esophageal neoplasm, Biliary tract neoplasm, Abnormality of the ureter, Intestinal obstruction, C... |
ORPHA:2869 |
Immunodeficiency 75 With Lymphoproliferation |
|
Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion... |
OMIM:619126 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Polycystic kidney dysplasia, Hydrocephalus, Choroid plexus cyst, Intestinal mal... |
OMIM:617866 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Mirage Syndrome |
|
Achalasia, Adrenal insufficiency, Hyponatremia, Thrombocytopenia, Aspiration pneumonia, Shawl scr... |
OMIM:617053 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Hepatic fibrosis, Ventricular septal defect, Lateral ventricle dilatation, P... |
OMIM:263520 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pu... |
ORPHA:1166 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic fibrosis, Hepatic cysts, Abnormality of the liver, Gastrointest... |
ORPHA:1505 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia, Recurrent respiratory infections, Pulmonary hypopl... |
OMIM:184260 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Hypospadias, Horses... |
OMIM:218350 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Small for gestational age,... |
ORPHA:79243 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Polycystic kidne... |
OMIM:236700 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Microphthalmia, Hypogonadism |
ORPHA:2528 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Hyperbilirubinemia, Cholestasis, Hepatomegaly, Increased serum bile acid concentration,... |
OMIM:620010 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Pericardial effusion, Hematuria, Elevated circulating creatine kinase concentration, Peri... |
ORPHA:231111 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
H Syndrome |
|
Hypertriglyceridemia, Hypogonadism, Bronchiectasis, Decreased testicular size, Enlarged kidney, A... |
ORPHA:168569 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:2182 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
Distal Monosomy 12Q |
|
Vesicoureteral reflux, Biliary atresia, Patent foramen ovale, Congenital hypertrophy of left vent... |
ORPHA:96149 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Ambiguous genitalia, Bifid tongue, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:613091 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:618577 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Anal atresia, Atrial septal defect, Microphthalmia, Abnormal external ... |
ORPHA:3469 |
Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Increased CSF protein concentration |
ORPHA:282166 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Azoospermia, Hydrocephalus |
ORPHA:2183 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... |
OMIM:619164 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Hydrocephalus |
ORPHA:363717 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Hypospadi... |
ORPHA:1046 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Anemia, Cirrhosis, Increased serum iron, Hypogonadism, Secondary amenorrhea, El... |
OMIM:613313 |
Tuberous Sclerosis Complex |
|
Respiratory tract infection, Noncommunicating hydrocephalus, Parathyroid adenoma, Renal angiomyol... |
ORPHA:805 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Ogden Syndrome |
|
Ventriculomegaly, Secundum atrial septal defect, Pulmonary hypoplasia, Global glomerulosclerosis,... |
OMIM:300855 |
Arima Syndrome |
|
Renal tubular atrophy, Dilated fourth ventricle, Hepatic fibrosis, Cirrhosis, Anemia, Stage 5 chr... |
OMIM:243910 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate, Ventriculomegaly |
OMIM:616570 |
Hydrocephalus, Congenital, X-Linked |
|
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum |
OMIM:307000 |
Bronchogenic Cyst |
|
Abnormal pericardium morphology, Abnormal pleura morphology, Pulmonary cyst, Atelectasis, Abnorma... |
ORPHA:2357 |
Primary Ciliary Dyskinesia |
|
Asplenia, Ventriculomegaly, Bronchiectasis, Double outlet right ventricle, Hydrocephalus, Peribro... |
ORPHA:244 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Pulmonary hypoplasia, Hypoplasia of the uterus, Anophthalmia, Ventricular sep... |
OMIM:601186 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate cancer, Biliary t... |
ORPHA:157798 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Encephalocele, Hepatitis, Jaundice, Hydroce... |
ORPHA:381 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Gracile Bone Dysplasia |
|
Asplenia, Ankyloglossia, Hydrocephalus, Hypocalcemia, Microphthalmia, Ascites, Hypoplastic spleen... |
OMIM:602361 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Hypoplasia of penis, ... |
ORPHA:77298 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Gonadal dysgenesis, male, Renal cyst, H... |
OMIM:231060 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hypogonadism, Esophageal atresia, Ventricular septal defect, Renal agenesis, Hy... |
OMIM:300514 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Decreased pro... |
OMIM:300853 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Unilateral renal agenes... |
OMIM:618494 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Splenomegaly, Abnormally large globe, High palate, Ventriculo... |
ORPHA:1655 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Proximal tubulopathy, Cirrhosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Unil... |
OMIM:614576 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, CSF lymphocytic pleiocytosis, ... |
OMIM:610333 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Neph... |
OMIM:619644 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Vacterl/Vater Association |
|
Ambiguous genitalia, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the urethra... |
ORPHA:887 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Ascites, Renal cyst, Polycystic liver disease |
OMIM:174050 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... |
OMIM:619868 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Trisomy 13 |
|
Anophthalmia, Abnormal morphology of female internal genitalia, Ventricular septal defect, Aplasi... |
ORPHA:3378 |
Lathosterolosis |
|
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperb... |
OMIM:607330 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury |
ORPHA:33111 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Ulcerativ... |
OMIM:618935 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Infertility, Azoospermia, Dilated cardiomyopathy, Increased circ... |
OMIM:602390 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Lobulated tongue, Hepatic fibrosis, Myelomeningocele, Bifid tongue, High palate... |
OMIM:311200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
3C Syndrome |
|
Atrioventricular canal defect, Ventriculomegaly, Ectopic anus, Cleft palate, Ventricular septal d... |
ORPHA:7 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Recurrent sinopu... |
OMIM:615513 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
Emanuel Syndrome |
|
Gastroesophageal reflux, High palate, Ventriculomegaly, Truncus arteriosus, Recurrent urinary tra... |
OMIM:609029 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... |
OMIM:612925 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia |
OMIM:616176 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... |
OMIM:617805 |
Cockayne Syndrome Type 1 |
|
Anemia, Anophthalmia, Male hypogonadism, Increased blood urea nitrogen, Cryptorchidism, Hepatomeg... |
ORPHA:90321 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Hydrocephalus |
OMIM:616521 |
Trisomy 1Q |
|
Ambiguous genitalia, Multicystic kidney dysplasia, Congenital megaureter, Ventriculomegaly, Anoph... |
ORPHA:261344 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Fryns Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Ventri... |
ORPHA:2059 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Nephropathy, Lymphadenopathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Anal atresia, Microphthalmia, Abnormal localization of kidney, Hydronep... |
ORPHA:195 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, Ly... |
OMIM:617514 |
Marden-Walker Syndrome |
|
High palate, Pyloric stenosis, Pulmonary hypoplasia, Zollinger-Ellison syndrome, Hypospadias, Dex... |
OMIM:248700 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, High palate, Ventriculomegaly, Ventricular septal... |
OMIM:606232 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Menorrhagia, Impaired platelet aggregation |
OMIM:124900 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Duodenal stenosis, Abno... |
ORPHA:2547 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Hydrocephalus |
OMIM:300886 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Jaundice, Type I diabetes mell... |
ORPHA:290 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Lymphadenopathy, Epididymitis |
OMIM:608106 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Villous atrophy, Steatorrhea... |
OMIM:602579 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Hajdu-Cheney Syndrome |
|
High palate, Ventricular septal defect, Polycystic kidney dysplasia, Hydrocephalus, Renal cyst, I... |
OMIM:102500 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Anencephaly, Bifid uvula, Malformation of the hepatic ductal plate, Ren... |
OMIM:614175 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612926 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Microphthalmia, Cryptorchidism, Cleft palate, Dandy-Walker m... |
OMIM:164180 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:613443 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the lung, Ileus, Neoplasm of the pancreas, Abnormality of the peritoneum, Lym... |
ORPHA:83469 |
Meckel Syndrome |
|
Asplenia, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Lobar holoprosencephaly, Furrowed ... |
ORPHA:564 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Bicornuate uterus, Renal agenesis, Hydrocephalus, Anal ... |
OMIM:264480 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Menorrhagia, Giant platelets, Macrothrombocytopenia, Imp... |
ORPHA:274 |
Joubert Syndrome 37 |
|
High palate, Decreased testicular size, Microphthalmia, Hepatomegaly, Cryptorchidism, Micropenis,... |
OMIM:619185 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Lateral ventricle dilatation |
OMIM:619278 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Multiple small medullary renal cysts, Encephalocele, Cirrhosis, Stage 5 chronic... |
OMIM:216360 |
Pfapa Syndrome |
|
Malabsorption, Recurrent pharyngitis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Esophageal atresia, Enlarged kidney, Hydrocephal... |
OMIM:314390 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Pierpont Syndrome |
|
Microphthalmia, Ventriculomegaly, Cryptorchidism |
ORPHA:487825 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Pleural effusion, Abnormal lung morphology, Lymphadenopathy, Hepatome... |
ORPHA:50251 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... |
OMIM:619220 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612924 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Gonadal dysgenesis, male, Abnormal cardiac septum morphology, Abnor... |
ORPHA:2075 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Aplasia/Hypoplasia of the lungs, Hydrocephal... |
ORPHA:3301 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Enlarged sylvian cistern, Microphthalmia, Cryptorchidism |
OMIM:600118 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Delayed pub... |
ORPHA:251004 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Bile duct proliferat... |
OMIM:603194 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Infertility, Elevated transferrin sat... |
ORPHA:465508 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:175700 |
Krabbe Disease |
|
Failure to thrive, Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac dis... |
OMIM:301068 |
Temple Syndrome |
|
Small for gestational age, Obesity, Hydrocephalus |
ORPHA:254516 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Cholestasis, Hepato... |
OMIM:615630 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Abnormal heart morphology, Total anomalous pulmonary venous return, Thrombocytopenia... |
ORPHA:487796 |
Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Leukopenia, Anemia, Decreased response to growth hormone stimulation test,... |
OMIM:603467 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bicuspid aortic valve, Anal atresia, Unilateral microphthalmos, Bilateral microp... |
OMIM:619318 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis, Ventriculomegaly, Dysphagia |
OMIM:308350 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:602342 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Re... |
ORPHA:1335 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Bronchiectasis, Lymphopenia, Autoimmune thrombocytopenia, Ly... |
OMIM:616100 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hydrocephalus, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Glioma, Hydrocephalus, Occipital encephalocele |
OMIM:241800 |
Emanuel Syndrome |
|
Ventriculomegaly, Ectopic anus, Truncus arteriosus, Bifid uvula, Dysphagia, Cleft palate, Ventric... |
ORPHA:96170 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Obesity, Hydrocephalus |
OMIM:601794 |
Immunodeficiency 64 With Lymphoproliferation |
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Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro... |
OMIM:618534 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Ambiguous genitalia, Encephalocele, Abnormal cardiac septum morphology, Renal hypoplasia/aplasia,... |
ORPHA:2166 |
Crouzon Syndrome With Acanthosis Nigricans |
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Hydrocephalus |
OMIM:612247 |
Immunodeficiency 27A |
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Anemia, Hepatosplenomegaly, Lymphadenopathy, Pneumonia, Thrombocytosis, Leukocytosis, Histiocytos... |
OMIM:209950 |
Meckel Syndrome, Type 6 |
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Absent gallbladder, Hepatic fibrosis, Hepatic cysts, Anencephaly, Hydrocephalus, Pulmonary hypopl... |
OMIM:612284 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
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Renal cyst, Multinodular goiter |
OMIM:138790 |
Purine Nucleoside Phosphorylase Deficiency |
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Recurrent urinary tract infections, Increased circulating inosine concentration, Neutropenia in p... |
OMIM:613179 |
Pontocerebellar Hypoplasia, Type 1A |
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Basal ganglia gliosis, Lateral ventricle dilatation |
OMIM:607596 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundi... |
OMIM:274150 |
Temple Syndrome |
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Hypercholesterolemia, Precocious puberty, High palate, Decreased testicular size, Bifid uvula, Hy... |
OMIM:616222 |
Fanconi Anemia, Complementation Group I |
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Vesicoureteral reflux, Hypothyroidism, Patent foramen ovale, Decreased response to growth hormone... |
OMIM:609053 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
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Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Heme Oxygenase 1 Deficiency |
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Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Diffuse alveo... |
OMIM:614034 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:109120 |
Fanconi Anemia, Complementation Group D2 |
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Bone marrow hypocellularity, Thrombocytopenia, Esophageal atresia, Hydrocephalus, Tracheoesophage... |
OMIM:227646 |
Immunodeficiency, Common Variable, 2 |
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Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent pneumonia, Lymphadenopathy, ... |
OMIM:240500 |
Lymphangioleiomyomatosis |
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Pneumothorax, Renal angiomyolipoma, Hydrocephalus, Hematuria, Chylopericardium, Emphysema, Renal ... |
ORPHA:538 |
Cholestasis-Lymphedema Syndrome |
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Cirrhosis, Malabsorption, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Hyperlipide... |
OMIM:214900 |
Harderoporphyria |
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Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Increased f... |
OMIM:618892 |
Renal Tubular Dysgenesis |
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Proximal tubulopathy, Pulmonary hypoplasia, Nephropathy, Multiple renal cysts, Tetralogy of Fallo... |
ORPHA:3033 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
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Hydrocephalus |
OMIM:615599 |
Meckel Syndrome, Type 9 |
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Occipital encephalocele, Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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High palate, Ventriculomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Ascites, Pulm... |
OMIM:235255 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Recurrent respiratory infections, Hepatitis, Pancytopenia, Inflammation of the large intestine, I... |
OMIM:300635 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... |
ORPHA:911 |
6P22 Microdeletion Syndrome |
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Hydrocephalus |
ORPHA:251046 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Nephronophthisis 20 |
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Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Pallister-Hall Syndrome |
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Precocious puberty, Renal dysplasia, Decreased circulating cortisol level, Holoprosencephaly, Cle... |
OMIM:146510 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
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Hydrocephalus |
ORPHA:397951 |
Rere-Related Neurodevelopmental Syndrome |
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Vesicoureteral reflux, Gastroesophageal reflux, Ventriculomegaly, Ventricular septal defect, Hypo... |
ORPHA:494344 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d... |
OMIM:618736 |
Kennedy Disease |
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Decreased fertility, Abnormal circulating lipid concentration, Type II diabetes mellitus, Erectil... |
ORPHA:481 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Lateral ventricle dilatation |
OMIM:618890 |
Alg2-Cdg |
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Lateral ventricle dilatation |
ORPHA:79326 |
Cofs Syndrome |
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Microphthalmia, Hypogonadism |
ORPHA:1466 |
Williams-Beuren Region Duplication Syndrome |
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Decreased response to growth hormone stimulation test, Ventriculomegaly, High palate, Hydrocephal... |
OMIM:609757 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Chiari Malformation Type Ii |
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Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Lig4 Syndrome |
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Hypothyroidism, Malabsorption, Type II diabetes mellitus, Hypoplasia of penis, Pancytopenia, Lymp... |
ORPHA:99812 |
Follicular Lymphoma |
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Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lymphadenopathy, Sp... |
ORPHA:545 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
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Lateral ventricle dilatation |
OMIM:617668 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Gliosis, Lateral ventricle dilatation |
OMIM:221770 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent upper and lower respiratory tract infections, Lymphadenopathy, Recurrent respiratory in... |
OMIM:605258 |
Fryns Syndrome |
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Pulmonary hypoplasia, Cleft palate, Ventricular septal defect, Bicornuate uterus, Shawl scrotum, ... |
OMIM:229850 |
Roberts Syndrome |
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High palate, Polycystic kidney dysplasia, Long penis, Microphthalmia, Cryptorchidism, Cleft palat... |
ORPHA:3103 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Fat malabsorption, Hyperbilirubinemia, Jaundice, Extramedullary hematopoiesis, Abnormal serum bil... |
ORPHA:79303 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Lateral ventricle dilatation |
OMIM:618330 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Webbed neck, Hydrocephalus, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis |
ORPHA:2701 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hydranencephaly, Agenesis of corpus c... |
OMIM:225790 |
Nasu-Hakola Disease |
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Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Orthostatic Hypotension 1 |
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High palate, Retrograde ejaculation, Nocturia, Reduced circulating prolactin concentration, Incre... |
OMIM:223360 |
Indomethacin Embryofetopathy |
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Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... |
ORPHA:1909 |
Acrorenal-Mandibular Syndrome |
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Unicornuate uterus, Narrow palate, High palate, Bicornuate uterus, Polycystic kidney dysplasia, A... |
OMIM:200980 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
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Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Lateral ventricle dilat... |
OMIM:210710 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:619955 |
Kimura Disease |
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Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Microphthalmia-Brain Atrophy Syndrome |
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Lateral ventricle dilatation |
ORPHA:77299 |
Encephalocraniocutaneous Lipomatosis |
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Subvalvular aortic stenosis, Ventricular septal defect, Hypoplasia of the iris, Hydrocephalus, At... |
OMIM:613001 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:615219 |
Cat Eye Syndrome |
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Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular septal defect, Atrial septal def... |
OMIM:115470 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Renal Dysplasia, Cystic, Susceptibility To |
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Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Thomas Syndrome |
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Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
Heterotaxy, Visceral, 1, X-Linked |
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Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Right atrial ... |
OMIM:306955 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Hydrocephalus, Macroglossia, Elevated circulating creatine kinase concentration, Microphthalmia, ... |
OMIM:613155 |
Meckel Syndrome, Type 3 |
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Hepatic fibrosis, Multicystic kidney dysplasia, Hydrocephalus, Malformation of the hepatic ductal... |
OMIM:607361 |
Rhyns Syndrome |
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Nephronophthisis, Abnormality of the liver, Multicystic kidney dysplasia, Hypopituitarism |
ORPHA:140976 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... |
OMIM:235400 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Abnormal... |
OMIM:615415 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, CSF pleo... |
OMIM:267700 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurren... |
OMIM:607594 |
Ornithine Transcarbamylase Deficiency |
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Aminoaciduria, Pyloric stenosis, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
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Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:616362 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Encephalocele, High palate, Bifid scrotum, Penoscrotal transposition, Anencephaly, Pyloric stenos... |
OMIM:619148 |
Floating-Harbor Syndrome |
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Gastroesophageal reflux, Precocious puberty, Congenital posterior urethral valve, Stage 5 chronic... |
ORPHA:2044 |
Systemic Sclerosis |
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Abnormal large intestine morphology, Abnormal stomach morphology, Elevated circulating creatine k... |
ORPHA:90291 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Colpocephaly |
OMIM:618731 |
Legionnaires Disease |
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Endocarditis, Abnormal pleura morphology, Hepatitis, Jaundice, Pancreatitis, Hematuria, Recurrent... |
ORPHA:549 |
Joubert Syndrome 18 |
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Intrahepatic biliary atresia, Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Renal... |
OMIM:614815 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hepatocellular carcinoma, Elevated circulating creatine kinase concentration, Hepatic steatosis, ... |
ORPHA:370 |
Pagod Syndrome |
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Meningocele, Ambiguous genitalia, Multicystic kidney dysplasia, Encephalocele, Abnormal testis mo... |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 12 |
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Lobulated tongue, Ambiguous genitalia, Patent foramen ovale, Periportal fibrosis, Ventricular sep... |
OMIM:269860 |
Smith-Lemli-Opitz Syndrome |
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Ambiguous genitalia, Precocious puberty, Bifid uvula, Pulmonary hypoplasia, Hepatic steatosis, Hy... |
OMIM:270400 |
Kleefstra Syndrome |
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Vesicoureteral reflux, Gastroesophageal reflux, Ventriculomegaly, Ventricular septal defect, Recu... |
ORPHA:261494 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Anemia, Hyperuricemia, Neutropenia, Renal cyst, Nephropathy, Elevated circulating creatinine conc... |
OMIM:617056 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Hypothyroidism, Decreased prealbumin level, Abnormal blood ion concentration, Abnormal intestine ... |
ORPHA:37042 |
Whipple Disease |
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Hypothyroidism, Anemia, Hyponatremia, Malabsorption, Pleuritis, Hydrocephalus, Erectile dysfuncti... |
ORPHA:3452 |
Mixed Connective Tissue Disease |
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Leukopenia, Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Hemolytic anemia... |
ORPHA:809 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... |
ORPHA:464329 |
Paroxysmal Nocturnal Hemoglobinuria |
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Impotence, Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuri... |
ORPHA:447 |
Hyperbilirubinemia, Shunt, Primary |
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Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Decreased circulating follicle stimulating hormone concentration, High palate, Decreased testicul... |
OMIM:308700 |
Immunodeficiency 54 |
|