| Li-Fraumeni Syndrome 2 |
|
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma |
OMIM:609265 |
| Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Familial Adenomatous Polyposis 3 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... |
OMIM:616415 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... |
ORPHA:454840 |
| Muir-Torre Syndrome |
|
Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit... |
OMIM:158320 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... |
ORPHA:247806 |
| Mismatch Repair Cancer Syndrome 1 |
|
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... |
OMIM:276300 |
| Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Thyroid... |
ORPHA:157794 |
| Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Familial Adenomatous Polyposis 1 |
|
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... |
OMIM:175100 |
| Enchondromatosis, Multiple, Ollier Type |
|
Multiple enchondromatosis, Hemangioma, Chondrosarcoma |
OMIM:166000 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
| Desmoid Disease, Hereditary |
|
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors |
OMIM:135290 |
| Mast Cell Sarcoma |
|
Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Familial Adenomatous Polyposis |
|
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... |
ORPHA:733 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the peritoneum |
ORPHA:2023 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
| Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
| Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Hemangioma, Chondrosarcoma |
OMIM:614569 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Myelodysplasia |
OMIM:162830 |
| Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... |
ORPHA:247798 |
| Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Hepatomega... |
OMIM:133180 |
| Acquired Ichthyosis |
|
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm |
ORPHA:454 |
| Ollier Disease |
|
Anemia, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Ne... |
ORPHA:296 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp... |
OMIM:174900 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... |
ORPHA:220460 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Maffucci Syndrome |
|
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... |
ORPHA:163634 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... |
ORPHA:447877 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma |
ORPHA:52416 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Anemia, Neoplasm of the central nervous system, Ileus, Sarcoma, Neoplasm of the... |
ORPHA:83469 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly |
OMIM:618709 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Kyphoscoliosis, Hydrocephalus, Thoracolumbar kyphosis |
OMIM:236660 |
| Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... |
ORPHA:44890 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma |
OMIM:615593 |
| Neuroendocrine Neoplasm Of Appendix |
|
Ileal adenocarcinoma, Midgut malrotation, Mechanical ileus, Adenocarcinoma of the colon, Elevated... |
ORPHA:100079 |
| Infantile Myofibromatosis |
|
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... |
ORPHA:2591 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
| Rhabdoid Tumor |
|
Anemia, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the liver, Renal neoplasm, L... |
ORPHA:69077 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... |
OMIM:182940 |
| Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Large Congenital Melanocytic Nevus |
|
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma |
ORPHA:626 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Carcinoma, Unilateral vestibular schwannoma |
OMIM:603641 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... |
ORPHA:79665 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E... |
ORPHA:158057 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Breast carcinoma, Lymphadenopathy, Hepatomegaly, Splenomegaly, B-cell lymphoma |
ORPHA:86893 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopeni... |
OMIM:614470 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Myelodysplasia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Micr... |
ORPHA:231401 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Masa Syndrome |
|
Hyperlordosis, Hydrocephalus, Ventriculomegaly, Kyphosis |
OMIM:303350 |
| Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses |
OMIM:133700 |
| Yellow Nail Syndrome |
|
Sarcoma, Biliary tract neoplasm, Renal neoplasm, Hypoplasia of lymphatic vessels, Neoplasm, Neopl... |
ORPHA:662 |
| Progressive Familial Intrahepatic Cholestasis |
|
Malabsorption, Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Desmoid Tumor |
|
Fibroma, Malabsorption, Neoplasm of the skin, Intestinal polyposis, Intestinal obstruction, Desmo... |
ORPHA:873 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Hodgkin Lymphoma |
|
Lymphoma, Lymphadenopathy, Neoplasm, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Myelodysplasia |
ORPHA:721 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestine morpholo... |
ORPHA:100025 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal a... |
ORPHA:424016 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Colitis, Splenomegaly, B-cell... |
OMIM:619164 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Mastocytosis |
|
Sarcoma, Mastocytosis, Hepatomegaly, Gastrointestinal hemorrhage, Acute leukemia, Splenomegaly, C... |
ORPHA:98292 |
| Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Abnormal hemoglo... |
ORPHA:846 |
| Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Peritonitis, Ascites, Ovarian fibroma |
ORPHA:314478 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune throm... |
OMIM:300853 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Werner Syndrome |
|
Breast carcinoma, Ovarian neoplasm, Thyroid carcinoma, Sarcoma, Squamous cell carcinoma, Gastroin... |
ORPHA:902 |
| Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
| Retinoblastoma |
|
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia, Cleft palate |
OMIM:180200 |
| Fried Syndrome |
|
Hydrocephalus, Scoliosis |
ORPHA:85335 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Follicular Lymphoma |
|
Lymphoma, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Granulo... |
ORPHA:75564 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Gastric varix, Splenomegaly |
OMIM:613490 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Scoliosis |
OMIM:300884 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Metatropic Dysplasia |
|
Kyphosis, Hydrocephalus, Abnormal intervertebral disk morphology, Hypoplastic cervical vertebrae,... |
ORPHA:2635 |
| Pettigrew Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:304340 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Lung Cancer |
|
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
ORPHA:171 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Delayed vertebral ossification, Hydrocephalus, Butterfly vertebrae, Thoracic kyphoscol... |
OMIM:613330 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphoma, Lymphadenopathy, Follicular hyperplasia, Neoplasm, Hepatomegaly, Splenomegaly |
OMIM:240500 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, High palate, Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia |
OMIM:619750 |
| Classic Mycosis Fungoides |
|
Lymphoma, Neoplasm of the skin, Lymphadenopathy, Hepatomegaly, Cutaneous T-cell lymphoma, Splenom... |
ORPHA:2584 |
| Lymphoproliferative Syndrome 2 |
|
Lymphoma, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Lymphoproliferative disorder, Hemoph... |
OMIM:615122 |
| Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Hydrocephalus, Abnormal vertebral morphology, Aqueductal ste... |
OMIM:276950 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Hydrocephalus |
OMIM:300886 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Neurofibromas, Intestinal obstruction, Dysphagia |
OMIM:606764 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo... |
ORPHA:79301 |
| Cronkhite-Canada Syndrome |
|
Stomach cancer, Anemia, Malabsorption, Gastrointestinal carcinoma, Intestinal polyposis, Colon ca... |
ORPHA:2930 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hematological neoplasm, ... |
ORPHA:98848 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Essential Thrombocythemia |
|
Abnormal platelet morphology, Acute leukemia, Splenomegaly, Myelodysplasia |
ORPHA:3318 |
| Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
| Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Abnormality of ... |
ORPHA:1414 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E... |
OMIM:269600 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Classic Hodgkin Lymphoma |
|
Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:391 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Generalized ... |
OMIM:615559 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
| Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Testicular neoplasm, Sarcoma, Neoplasm of the thyroid gland, Neoplasm of the breast |
ORPHA:457059 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Schnitzler Syndrome |
|
Lymphoma, Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
| Monosomy 22 |
|
High palate, Sarcoma, Gonadal neoplasm, Hepatosplenomegaly, Meningioma, Schwannoma, Hypochromic m... |
ORPHA:96123 |
| Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
| Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
| Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... |
ORPHA:790 |
| Tuberous Sclerosis 2 |
|
Astrocytoma, Chordoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Adenoma sebaceum, Retinal hamar... |
OMIM:613254 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
| Terminal Osseous Dysplasia |
|
Fibroma, Cleft palate |
OMIM:300244 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... |
ORPHA:3226 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Scoliosis, Kyphosis |
ORPHA:2181 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Sacral dimple, Short neck, Hydrocephalus |
ORPHA:1516 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Fat malabsorption, Hepatocellular carcinoma, Intrahepatic chole... |
OMIM:601847 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614120 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Autoimmune hemolytic anemia, Lymphoproliferative disorder, ... |
ORPHA:90033 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Myelomeningocele, Block vertebrae, Vertebral segmentation defect, Hydrocephalus... |
OMIM:613686 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
| Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphad... |
ORPHA:100026 |
| Carney Triad |
|
Anemia, Ascites, Pheochromocytoma, Lymphadenopathy, Mediastinal lymphadenopathy, Paraganglioma, G... |
ORPHA:139411 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short neck, Hydrocephalus |
ORPHA:2183 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteosarcoma, Histiocytoma, Fibrosarcoma |
OMIM:112250 |
| 6P22 Microdeletion Syndrome |
|
Short neck, Hydrocephalus |
ORPHA:251046 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Lymphadenopathy, Lymphoproliferative disorder, Hepatomegaly, S... |
OMIM:609981 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphoma, Hepatic failure, Burkitt lymphoma, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Ly... |
OMIM:308240 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia, Angiosarcoma |
ORPHA:90186 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver dis... |
OMIM:214900 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcino... |
OMIM:610755 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
| Vitamin K Antagonist Embryofetopathy |
|
Punctate vertebral calcifications, Short neck, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Turcot Syndrome With Polyposis |
|
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... |
ORPHA:99818 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Peptic ulcer, Chronic myelomonocytic leukemia, Myelodysplasia, Hematologi... |
ORPHA:98849 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Ventriculomegaly, Kyphosis, Hydrocephalus, Holoprosencephaly, Platyspondyly |
ORPHA:93274 |
| Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hydrocephalus, Scoliosis, Hemivertebrae |
ORPHA:377 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:618577 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... |
OMIM:619658 |
| Carney-Stratakis Syndrome |
|
Paraganglioma, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gastrointestinal s... |
ORPHA:97286 |
| Alexander Disease Type I |
|
Hydrocephalus, Scoliosis |
ORPHA:363717 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hemivertebrae, Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2180 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hemangioma, Poikilocytosi... |
ORPHA:824 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, High palate, Adenocarcinoma of the colon, Reticulocytopenia, ... |
ORPHA:124 |
| Sézary Syndrome |
|
Lymphoma, Neoplasm of the skin, Lymphadenopathy, Hepatomegaly, Cutaneous T-cell lymphoma, Splenom... |
ORPHA:3162 |
| Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
| Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Pituitary null cell aden... |
ORPHA:276152 |
| Neurofibromatosis Type 1 |
|
Spinal neurofibromas, Multiple lipomas, Astrocytoma, Urinary tract neoplasm, Neoplasm of the gast... |
ORPHA:636 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Abnormal form of the vertebral bodies, Abnormal sacrum morphology |
ORPHA:93262 |
| Paragangliomas 4 |
|
Glomus jugular tumor, Renal cell carcinoma, Gastrointestinal stroma tumor, Chemodectoma, Paragang... |
OMIM:115310 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly |
ORPHA:75234 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Kyphosis, Hydrocephalus, Abnormal sacroiliac joint morphology, Platyspondyly |
ORPHA:2655 |
| Cowden Syndrome |
|
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... |
ORPHA:201 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
| Autoimmune Hemolytic Anemia |
|
Lymphoma, Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:98375 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Fibroma, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Achala... |
ORPHA:1018 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Scoliosis |
ORPHA:99947 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fi... |
OMIM:602347 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Subcutaneous panniculitis-like T-cell lymphoma, Pancytopenia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Short neck, Hydrocephalus |
OMIM:613776 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:2182 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Cole-Carpenter Syndrome 1 |
|
Vertebral compression fracture, Hydrocephalus, Scoliosis, Communicating hydrocephalus |
OMIM:112240 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Scoliosis |
OMIM:617542 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Common Variable Immunodeficiency |
|
Lymphoma, Abnormality of the liver, Hemolytic anemia, Elevated hepatic transaminase, Anal atresia... |
ORPHA:1572 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Peritonitis, Elevated hepatic transaminase, Cholecystitis, Ga... |
ORPHA:131 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Temple Syndrome |
|
Hydrocephalus, Scoliosis |
ORPHA:254516 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hemivertebrae, Holoprosencephaly, Abnormal vertebral morphology |
ORPHA:77298 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Sp... |
OMIM:278000 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Thrombocytosis, Splenomegaly, Chronic myelogenous leukemia |
ORPHA:71493 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Hydrocephalus |
ORPHA:2701 |
| Central Precocious Puberty |
|
Hydrocephalus |
ORPHA:759 |
| Pudendal Neuralgia |
|
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormality of the vertebral column, Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Bresek Syndrome |
|
Hemivertebrae, Hydrocephalus, Scoliosis |
ORPHA:85284 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, A... |
OMIM:235200 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hepatic failure, Splenomegaly |
ORPHA:664 |
| Hydrocephalus, Congenital, X-Linked |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:307000 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Sacral Defect With Anterior Meningocele |
|
Meningocele, Back pain, Myelomeningocele, Anterior sacral meningocele, Absence of the sacrum, Hem... |
OMIM:600145 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Hydrocephalus, Ventriculomegaly, Kyphosis |
OMIM:603387 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616355 |
| Beta-Thalassemia Intermedia |
|
Cirrhosis, Splenomegaly, Abnormality of the liver, Increased HbA2 hemoglobin, Jaundice, Extramedu... |
ORPHA:231222 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Neoplasm of the skin, Reticulocytosis... |
ORPHA:3261 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Cleft palate |
ORPHA:33001 |
| Wolman Disease |
|
Anemia, Hepatic failure, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal varix, Asc... |
ORPHA:75233 |
| Diabetic Embryopathy |
|
Vertebral segmentation defect, Spinal dysraphism, Hydrocephalus, Abnormal sacrum morphology |
ORPHA:1926 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Peptic ulcer, Parathyroid adenoma, Thyroid ca... |
ORPHA:99880 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Vertebral wedging, Choroid plexus cyst, Hydrocephalus, Platyspondyly |
OMIM:617866 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616362 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Platyspondyly |
OMIM:300863 |
| Omenn Syndrome |
|
Lymphoma, Anemia, Lymphadenopathy, Hepatomegaly, Eosinophilia, Leukocytosis, Splenomegaly, Abnorm... |
ORPHA:39041 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Hypoplasia of the odontoid process, Hydrocephalus... |
OMIM:253220 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Neoplasm, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
| Parathyroid Carcinoma |
|
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Peptic ulcer, Thyroid carcinoma, Renal hamart... |
ORPHA:143 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Multiple myeloma, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
| Polycythemia Vera |
|
Myelodysplasia, Portal vein thrombosis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hyperte... |
ORPHA:729 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Fat malabsorption, Jaundice, Elevated hepatic transaminase, Acholic s... |
OMIM:607765 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
| Achondroplasia |
|
Kyphosis, Hydrocephalus, Spinal canal stenosis, Cervical spinal canal stenosis, Thoracolumbar kyp... |
ORPHA:15 |
| Crouzon Syndrome |
|
Hydrocephalus, Abnormal sacrum morphology |
ORPHA:207 |
| Ritscher-Schinzel Syndrome 1 |
|
Hemivertebrae, Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
| Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Hydrocephalus, Short neck, Scoliosis, Abnormal form of the vertebr... |
ORPHA:1834 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Kyphosis, Hydrocephalus, Platyspondyly, Sclerotic vertebral body, Dandy-Walker ... |
OMIM:618476 |
| Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Elevated hepat... |
ORPHA:2137 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Occipital encephalocele, Lumbar hyperl... |
ORPHA:370959 |
| Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Temple Syndrome |
|
Hydrocephalus, Scoliosis |
OMIM:616222 |
| Thanatophoric Dysplasia Type 1 |
|
Ventriculomegaly, Kyphosis, Hydrocephalus, Abnormal sacroiliac joint morphology, Platyspondyly |
ORPHA:1860 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Abnormality of the vertebral column, Hydrocephalus, Abnormal vertebral morphology |
OMIM:314390 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cholestasis, ... |
OMIM:235555 |
| L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Short neck, Severe platyspondyly, Platyspondyly |
OMIM:187600 |
| 3C Syndrome |
|
Ventriculomegaly, Kyphosis, Hydrocephalus, Short neck, Scoliosis, Hemivertebrae, Dandy-Walker mal... |
ORPHA:7 |
| Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy |
OMIM:207950 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Ulcerative colitis, Lymphopen... |
OMIM:618935 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Cavernous hemangioma, Portal vein thrombosis, Esophageal varix, Right ventricular ... |
OMIM:616028 |
| Caroli Disease |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Biliary cirrhosis,... |
ORPHA:53035 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Holoprosencephaly |
ORPHA:1908 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Scoliosis, Ventriculomegaly, Colpocephaly |
OMIM:619833 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Gastrointestin... |
OMIM:263300 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:611134 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Platyspondyly |
ORPHA:163966 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Hydranencephaly, Prominent protruding coccyx, Abnormal form of the v... |
ORPHA:2839 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Kyphosis, Platyspondyly |
OMIM:616294 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Hydrocephalus, Ventriculomegaly, Hypoplastic vertebral bodies |
OMIM:272200 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Communicating hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Emanuel Syndrome |
|
Sacral dimple, Ventriculomegaly, Kyphosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation |
OMIM:609029 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Triploidy |
|
Meningocele, Holoprosencephaly, Short neck, Hydrocephalus |
ORPHA:3376 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Joubert Syndrome |
|
Hydrocephalus, Encephalocele, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:475 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Short neck, Abnormal vertebral morphology, Ventriculomegaly |
OMIM:300514 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Lateral Meningocele Syndrome |
|
Meningocele, Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Hydrocephalus, Short neck, S... |
OMIM:130720 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Ependymom... |
ORPHA:652 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
| Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
| Posterior Meningocele |
|
Meningocele, Neural tube defect, Thoracic hemivertebrae, Occipital meningocele, Hydrocephalus, Li... |
ORPHA:268810 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:2169 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
| Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Narrow vertebral inte... |
OMIM:100800 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:238769 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Absence of the sacrum, Spina bifida, Arrhinencephaly, Hydrocephalus, Hemiver... |
ORPHA:3412 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
| Iniencephaly |
|
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hyd... |
ORPHA:63259 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Scoliosis, Kyphosis |
ORPHA:2075 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Scoliosis, Abnormal vertebral morphology |
ORPHA:220493 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Impaired neutrophil bactericidal activity, Jaundice, Cholecystitis,... |
OMIM:613470 |
| Tuberous Sclerosis Complex |
|
Parathyroid adenoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Pancreatic endocrine tumor, Retin... |
ORPHA:805 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Scoliosis |
OMIM:615249 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hyperlordosis, Hypoplasia of the odontoid process, Hydrocephalus, Spinal canal stenosis, Scoliosi... |
OMIM:616007 |
| Emanuel Syndrome |
|
Sacral dimple, Ventriculomegaly, Hydrocephalus, Kyphoscoliosis, Scoliosis, Dandy-Walker malformation |
ORPHA:96170 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Renal angiomyolipoma, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocyto... |
OMIM:260920 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Aicardi Syndrome |
|
Hemangioma, Carcinoma, Teratoma, Hepatoblastoma, Lipoma, Cleft palate, Metastatic angiosarcoma, H... |
OMIM:304050 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Split Cord Malformation |
|
Meningocele, Hyperlordosis, Back pain, Myelomeningocele, Abnormal lumbar spine morphology, Low ba... |
ORPHA:573278 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Hydrocephalus, Kyphosis, Lumbar hyperlordosis |
OMIM:616482 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Thrombocytopenia, Prot... |
ORPHA:731 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Short neck, Anisospondyly, Hydrocephalus |
ORPHA:1865 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Splenomegaly, Lipoma |
OMIM:612918 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Encephalocele, Scoliosis |
ORPHA:2318 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Sandwich appearance of vertebral bodies |
OMIM:259700 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
| 16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Ventriculomegaly, Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:500055 |
| Familial Tumoral Calcinosis |
|
Splenomegaly, Neoplasm of the skin, Hepatomegaly |
ORPHA:53715 |
| Tenorio Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616260 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Encephalocele, Scoliosis |
ORPHA:220497 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Scoliosis |
OMIM:612940 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hemivertebrae, Hydrocephalus, Scoliosis |
OMIM:104350 |
| Hurler Syndrome |
|
Biconcave vertebral bodies, Kyphosis, Hypoplasia of the odontoid process, Hydrocephalus, Short ne... |
OMIM:607014 |
| Hydrolethalus |
|
Anencephaly, Arrhinencephaly, Hydrocephalus |
ORPHA:2189 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:615219 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Scoliosis, Kyphosis |
OMIM:619951 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Ventriculomegaly, Spinal rigidity, Hydrocephalus, Scoliosis |
OMIM:613150 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Holoprosencephaly, Scoliosis |
OMIM:253800 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
| Joubert Syndrome 14 |
|
Meningocele, Hydrocephalus, Encephalocele, Dandy-Walker malformation |
OMIM:614424 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Short neck, Encephalocele, Hydrocephalus |
OMIM:224400 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Griscelli Syndrome |
|
Hydrocephalus, Encephalocele |
ORPHA:381 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplasia of the odontoid process, Hydrocephalus, Anterior wedging of L2, Kyphoscoliosis, Ovoid ... |
OMIM:253200 |
| Trisomy 17P |
|
Hydrocephalus, Short neck, Scoliosis |
ORPHA:261290 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Anterior atlanto-occipital dislocation, Atlantoaxial dislocation, Hydrocephalus, Congenital kypho... |
ORPHA:536467 |
| Distal Tetrasomy 15Q |
|
Dandy-Walker malformation, Hydrocephalus, Scoliosis, Kyphosis |
ORPHA:314588 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Narrow vertebral interpedicular distance, Hydrocephalus, Spinal canal stenosis, Hypoplastic verte... |
OMIM:101800 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate |
ORPHA:90065 |
| Crouzon Syndrome |
|
Hydrocephalus, Abnormality of the cervical spine |
OMIM:123500 |
| Syndromic Diarrhea |
|
Cirrhosis, Hepatic fibrosis, Abnormality of the liver, Hypoplasia of the thymus, Villous atrophy,... |
ORPHA:84064 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Spina bifida, Vertebral wedging, Hydrocephalus, Kyphoscoliosis, Scoliosis, Hemi... |
OMIM:109400 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Pseudotrisomy 13 Syndrome |
|
Hemivertebrae, Holoprosencephaly, Encephalocele, Hydrocephalus |
OMIM:264480 |
| Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus |
ORPHA:1136 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Sickle Cell Disease |
|
Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Increased red cell sickling tendenc... |
OMIM:603903 |
| Thakker-Donnai Syndrome |
|
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion, Communicating hydrocephalus |
ORPHA:1780 |
| Arachnoid Cyst |
|
Back pain, Encephalocele, Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Sci... |
ORPHA:2356 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Alobar holoprosencephaly, Subependymal cyst... |
OMIM:619895 |
| Pentalogy Of Cantrell |
|
Anencephaly, Hydrocephalus, Encephalocele, Scoliosis |
ORPHA:1335 |
| Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
| Hurler Syndrome |
|
Hydrocephalus, Spinal canal stenosis, Abnormal vertebral morphology, Short neck, Scoliosis |
ORPHA:93473 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Hydrocephalus |
ORPHA:3301 |
| Tyrosinemia, Type I |
|
Cirrhosis, Hepatic failure, Anemia, Enlarged kidney, Paralytic ileus, Elevated hepatic transamina... |
OMIM:276700 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Splenomegaly, Villous atrophy,... |
ORPHA:567983 |
| Trisomy 1Q |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
| Tetrasomy 5P |
|
Short neck, Hydrocephalus |
ORPHA:3309 |
| Mucopolysaccharidosis, Type Ii |
|
Short neck, Hydrocephalus, Kyphosis |
OMIM:309900 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Spinal canal stenosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:579 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Alexander Disease |
|
Hyperlordosis, Aqueductal stenosis, Kyphosis, Hydrocephalus, Short neck, Scoliosis |
ORPHA:58 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hydrocephalus, Kyphosis, Lateral ventricular asymmetry |
OMIM:616914 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Fg Syndrome Type 1 |
|
Sacral dimple, Hydrocephalus, Ventriculomegaly |
ORPHA:93932 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, Scoliosis |
OMIM:618590 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
| Cousin Syndrome |
|
Anterior rounding of vertebral bodies, Hydrocephalus, Hydranencephaly, Short neck, Prominent prot... |
OMIM:260660 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Irregular vertebral endplates, Kyphosis, Posterior scalloping of vertebral bodies, Hydrocephalus,... |
ORPHA:3042 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
| Kabuki Syndrome |
|
Vertebral clefting, Ventriculomegaly, Hydrocephalus, Butterfly vertebrae, Scoliosis, Hemivertebra... |
ORPHA:2322 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
| Monosomy 9Q22.3 |
|
Ventriculomegaly, Kyphosis, Hydrocephalus, Short neck, Abnormality of the vertebral column |
ORPHA:77301 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Hajdu-Cheney Syndrome |
|
Biconcave vertebral bodies, Hydrocephalus, Kyphoscoliosis, Short neck, Cervical instability, Tall... |
OMIM:102500 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Lowry-Maclean Syndrome |
|
Hydrocephalus |
ORPHA:2409 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Short neck, Scoliosis, Platyspondyly |
OMIM:245600 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Kyphoscoliosis, Normal pressure hydrocephalus, Lateral ventricle dilatation |
ORPHA:300570 |
| Mirage Syndrome |
|
Hydrocephalus, Scoliosis |
OMIM:617053 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
| Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus |
ORPHA:2969 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Monosomy 18Q |
|
Kyphoscoliosis, Hydrocephalus, Atlantoaxial abnormality |
ORPHA:1600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hydrocephalus, Abnormal vertebral segmentation and fusion, Scoli... |
ORPHA:90652 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Scoliosis, Dandy-Walker malformation, Abnormal coccyx morphology |
ORPHA:314585 |
| Marshall-Smith Syndrome |
|
Ventriculomegaly, Kyphosis, Thoracic kyphosis, Atlantoaxial dislocation, Hypoplasia of the odonto... |
OMIM:602535 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Short neck, Ventriculomegaly, Dandy-Walker malformation |
OMIM:257300 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Scoliosis |
ORPHA:1454 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Short neck, Hydrocephalus |
OMIM:616546 |
| Adams-Oliver Syndrome |
|
Hydrocephalus, Encephalocele |
ORPHA:974 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Short neck, Scoliosis |
OMIM:115150 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Sh... |
ORPHA:2162 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
| 17Q11 Microdeletion Syndrome |
|
Glomus jugular tumor, Breast carcinoma, Myelodysplasia, Atypical neurofibromatosis, Brainstem gli... |
ORPHA:97685 |
| Mohr Syndrome |
|
Hydrocephalus, Scoliosis |
OMIM:252100 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Ventriculomegaly, Hydrocephalus, Short neck, Hemivertebrae |
ORPHA:96121 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Anencephaly, Hydrocephalus |
OMIM:612284 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thoracic kyphosis, Hydrocephalus, Lumbar kyphosis, Short neck, Lumbar hyperlordosis |
ORPHA:505248 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, Scoliosis, C1-C2 vertebral abnormality |
OMIM:182212 |
| Medulloblastoma |
|
Back pain, Hydrocephalus |
ORPHA:616 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Short neck, Scoliosis |
ORPHA:1340 |
| Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:93259 |
| Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
| Dural Sinus Malformation |
|
Hydrocephalus, Myelopathy |
ORPHA:97339 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Encephalocele, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Short neck, Hydrocephalus, Lumbar hyperlordosis |
OMIM:305450 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Hydrocephalus |
ORPHA:268249 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cirrhosis, Hepatic failure, Splenomegaly, Hypersplenism, Neoplasm of the liver, Acute promyelocyt... |
ORPHA:77293 |
| Joubert Syndrome 2 |
|
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele |
OMIM:608091 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Holoprosencephaly, Short neck, Hydrocephalus |
OMIM:269860 |
| Whipple Disease |
|
Hydrocephalus |
ORPHA:3452 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Ventriculomegaly, Kyphosis, Communicating hydrocephalus, Scoliosis |
OMIM:617011 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies, Ventriculomegaly |
ORPHA:2462 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| Hajdu-Cheney Syndrome |
|
Biconcave vertebral bodies, Kyphosis, Hydrocephalus, Short neck, Scoliosis, Hypoplastic 5th lumba... |
ORPHA:955 |
| Endocrine-Cerebroosteodysplasia |
|
Holoprosencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:612651 |
| Campomelic Dysplasia |
|
Spinal dysraphism, Spina bifida, Cervical kyphosis, Hydrocephalus, Poorly ossified cervical verte... |
OMIM:114290 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Scoliosis |
ORPHA:250989 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
| Dubowitz Syndrome |
|
Spina bifida occulta, Hydrocephalus, Scoliosis, Sacral dimple |
ORPHA:235 |
| Coccidioidomycosis |
|
Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Increased CSF pr... |
ORPHA:228123 |
| Dermatomyositis |
|
Lymphoma, Breast carcinoma, Lung adenocarcinoma, Abnormal eosinophil morphology, Neoplasm, Gastro... |
ORPHA:221 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Spinal neurofibromas, High palate, Ossifying fibroma, Schwannoma, Hemangioma, Subcutaneous neurof... |
ORPHA:363700 |
| Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
| Marden-Walker Syndrome |
|
Kyphosis, Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2461 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subependymal nodules, Communicating hydrocephalus, Ventriculomegaly |
ORPHA:25 |
| Osteogenesis Imperfecta |
|
Biconcave vertebral bodies, Noncommunicating hydrocephalus, Ventriculomegaly, Kyphosis, Cervical ... |
ORPHA:666 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
| Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies, Ventriculomegaly |
ORPHA:581 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
| Limb Body Wall Complex |
|
Encephalocele, Myelomeningocele, Spina bifida, Progressive congenital scoliosis, Anencephaly, Hyd... |
ORPHA:2369 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Hyperlordosis, Ventriculomegaly, Kyphosis, Spina bifida, Hydrocephalus, Spondyloli... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Hyperlordosis, Ventriculomegaly, Kyphosis, Spina bifida, Hydrocephalus, Spondyloli... |
ORPHA:363958 |
| Osteopathia Striata With Cranial Sclerosis |
|
Spina bifida occulta, Hydrocephalus, Scoliosis, Thoracolumbar kyphosis |
OMIM:300373 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hypoglycorrhachia, Short neck, Communicating hydrocephalus |
ORPHA:168577 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Hydrocephalus, Meningoencephalocele, Occipital encephalocele, Dandy-Walker malf... |
OMIM:236670 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:457284 |
| Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Scoliosis, Aqueductal stenosis |
OMIM:162200 |
| Aymé-Gripp Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:1272 |
| Jacobsen Syndrome |
|
Holoprosencephaly, Short neck, Hydrocephalus |
OMIM:147791 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hydrocephalus, Hypoplastic coccygeal vertebrae, Aqueductal stenosis |
OMIM:619512 |
| Raine Syndrome |
|
Short neck, Hydrocephalus |
OMIM:259775 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Short neck, Hydrocephalus |
OMIM:614083 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation |
OMIM:619575 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:259720 |
| Mend Syndrome |
|
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Kyphosis |
ORPHA:401973 |
| Cerebrooculonasal Syndrome |
|
Hydrocephalus, Encephalocele, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
| Oeis Complex |
|
Myelomeningocele, Absence of the sacrum, Hydrocephalus, Sacral segmentation defect, Hemivertebrae |
OMIM:258040 |
| Mend Syndrome |
|
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Kyphosis |
OMIM:300960 |
| Holoprosencephaly 7 |
|
Hydrocephalus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ho... |
OMIM:610828 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Occipital encephalocel... |
OMIM:615287 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
| Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus |
OMIM:313850 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Abnormality of the cervical spine, Scoliosis, Aqueductal stenosis |
OMIM:154400 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
| Trisomy 8P |
|
Sacral dimple, Short neck, Hydrocephalus, Dandy-Walker malformation |
ORPHA:264450 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Ventriculomegaly, Anencephaly, Hydrocephalus, Short neck, Occipital enc... |
OMIM:249000 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Scoliosis, Abnormal vertebral morphology |
ORPHA:95699 |
| H Syndrome |
|
Hydrocephalus |
ORPHA:168569 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Holoprosencephaly, Hydrocephalus, Encephalocele |
ORPHA:2166 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Ventriculomegaly, Kyphosis, Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate conc... |
OMIM:619475 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Ventriculomegaly, Kyphosis, Communicating hydrocephalus, Kyphoscoliosis, Lumbar hyperlordosis |
ORPHA:457359 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Myelomeningocele, Aqueductal stenosis, Absence of the sacrum, Block vertebrae, Hydrocephalus |
OMIM:306955 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Scoliosis, Kyphosis |
ORPHA:2658 |
| Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Spina bifida, Arrhinencephaly, Hydrocephalus, Short neck, Occipital myelomeningocele... |
ORPHA:567 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Hydrocephalus, Scoliosis |
ORPHA:261337 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Hydrocephalus, Abnormal form of the vertebral bodies |
ORPHA:1106 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Vertebral fusion, Ventriculomegaly, Kyphosis, Hydrocephalus, Scoliosis, Abnormal f... |
OMIM:194190 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Alpha-Mannosidosis, Infantile Form |
|
Short neck, Communicating hydrocephalus, Platyspondyly |
ORPHA:309282 |
| Meckel Syndrome |
|
Encephalocele, Anencephaly, Hydrocephalus, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
| Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:84 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Scoliosis, Thoracolumbar kyphosis, Ventriculomegaly |
ORPHA:2072 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus |
ORPHA:79282 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Colpocephaly |
OMIM:309801 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
| Smith-Lemli-Opitz Syndrome |
|
Sacral dimple, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation, Colpocephaly |
OMIM:270400 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Hydrocephalus, Short neck, Cleft vertebral arch, Platyspondyly, Col... |
OMIM:210710 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Scoliosis, Cervical spine instability |
OMIM:609192 |
| Orofaciodigital Syndrome I |
|
Hydrocephalus, Myelomeningocele |
OMIM:311200 |
| Pseudoaminopterin Syndrome |
|
Sacrococcygeal pilonidal abnormality, Hydrocephalus |
ORPHA:221120 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus |
OMIM:227646 |
| Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
| Meningioma |
|
Back pain, Hydrocephalus |
ORPHA:2495 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus |
ORPHA:163979 |
| Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Ventriculomegaly, Kyphosis |
OMIM:216400 |
| Fontaine Progeroid Syndrome |
|
Hydrocephalus, Scoliosis, Platyspondyly |
OMIM:612289 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus |
ORPHA:137675 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Baller-Gerold Syndrome |
|
Spina bifida occulta, Hydrocephalus, Scoliosis, Abnormal vertebral morphology |
OMIM:218600 |
| Full Nf2-Related Schwannomatosis |
|
Hydrocephalus, Myelopathy |
ORPHA:637 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Scoliosis, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Scoliosis, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Scoliosis, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Scoliosis, Neural tube defect |
ORPHA:93924 |
| Costello Syndrome |
|
Hydrocephalus, Short neck, Ventriculomegaly |
OMIM:218040 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Scoliosis, Abnormal vertebral morphology, Lateral ventricle dilatation |
OMIM:147920 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Hydrocephalus |
ORPHA:2556 |
| Otopalatodigital Syndrome, Type Ii |
|
Spondylolysis, Spina bifida, Hydrocephalus, Kyphoscoliosis, Short neck, Platyspondyly |
OMIM:304120 |
| Cockayne Syndrome B |
|
Normal pressure hydrocephalus, Kyphosis |
OMIM:133540 |
| Wiedemann-Rautenstrauch Syndrome |
|
Irregular sclerotic endplates, Hydrocephalus, Hypoplastic vertebral bodies, Kyphoscoliosis, Cervi... |
ORPHA:3455 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Short neck, Scoliosis, Dandy-Walker malformation |
OMIM:264090 |
| Holoprosencephaly 9 |
|
Holoprosencephaly, Hydrocephalus |
OMIM:610829 |
| Gaucher Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:355 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
| Focal Dermal Hypoplasia |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Scoliosis |
OMIM:305600 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies |
ORPHA:580 |
| Tetrasomy 9P |
|
Sacral dimple, Short neck, Hydrocephalus, Dandy-Walker malformation |
ORPHA:3310 |
| Fetal Akinesia Deformation Sequence 1 |
|
Short neck, Hydrocephalus |
OMIM:208150 |
| Loeys-Dietz Syndrome 2 |
|
Spondylolisthesis, Hydrocephalus, Scoliosis |
OMIM:610168 |
| Peters Plus Syndrome |
|
Sacral dimple, Ventriculomegaly, Hydrocephalus, Spina bifida occulta, Short neck |
ORPHA:709 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mild fetal ventriculomegaly, Communicating hydrocephalus, Scoliosis |
OMIM:619841 |
| Peters-Plus Syndrome |
|
Ventriculomegaly, Hydrocephalus, Short neck, Scoliosis, Hemivertebrae |
OMIM:261540 |
| Fraser Syndrome 1 |
|
Hydrocephalus, Encephalocele, Myelomeningocele |
OMIM:219000 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Scoliosis, Lateral ventricle dilatation |
OMIM:607872 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus |
ORPHA:667 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Yunis-Varon Syndrome |
|
Arrhinencephaly, Hydrocephalus |
ORPHA:3472 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Six lumbar vertebrae, Vertebral segmentation defect, Hydrocephalus, Scoliosis |
OMIM:312870 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus |
OMIM:619321 |
| Coffin-Siris Syndrome 12 |
|
Noncommunicating hydrocephalus, Scoliosis |
OMIM:619325 |
| Craniofacial Microsomia |
|
Vertebral hypoplasia, Block vertebrae, Hydrocephalus, Scoliosis, Occipital encephalocele, Hemiver... |
OMIM:164210 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation |
OMIM:619534 |
| Hydrolethalus Syndrome 1 |
|
Anencephaly, Arrhinencephaly, Dandy-Walker malformation, Severe hydrocephalus |
OMIM:236680 |
| Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus |
ORPHA:322 |
| Roberts-Sc Phocomelia Syndrome |
|
Short neck, Frontal encephalocele, Hydrocephalus |
OMIM:268300 |
| Townes-Brocks Syndrome 1 |
|
Holoprosencephaly, Hydrocephalus |
OMIM:107480 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
