| Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
| Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
| Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
| 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 |
| Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
| Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
| Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma |
ORPHA:2023 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
| Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
| Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
| Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
| Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... |
ORPHA:296 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... |
ORPHA:83469 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly |
OMIM:618709 |
| Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect... |
ORPHA:100079 |
| Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Immunodeficiency 16 |
|
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
| Rhabdoid Tumor |
|
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... |
ORPHA:69077 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
| Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
| Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
| Masa Syndrome |
|
Kyphosis, Hydrocephalus, Ventriculomegaly, Hyperlordosis |
OMIM:303350 |
| Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia of lymphatic v... |
ORPHA:662 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Lymphad... |
ORPHA:100025 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm |
ORPHA:172 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... |
ORPHA:873 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Myelodysplasia |
ORPHA:721 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Ly... |
OMIM:619164 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Lymph... |
ORPHA:424016 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
| Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Ascites |
ORPHA:314478 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
| Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
| Fried Syndrome |
|
Hydrocephalus, Scoliosis |
ORPHA:85335 |
| Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
| Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ... |
ORPHA:75564 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy |
ORPHA:545 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Scoliosis |
OMIM:300884 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ... |
ORPHA:2635 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm |
OMIM:240500 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, High palate, Fibroma |
OMIM:619750 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Kyphoscoliosis, Short neck, H... |
OMIM:613330 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... |
OMIM:620282 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morph... |
OMIM:276950 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Kyphoscoliosis |
OMIM:300886 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... |
OMIM:619375 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... |
ORPHA:96123 |
| Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia |
ORPHA:3318 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity |
ORPHA:391 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia |
ORPHA:37748 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, ... |
ORPHA:397596 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
| Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
| Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
| Terminal Osseous Dysplasia |
|
Fibroma, Cleft palate |
OMIM:300244 |
| Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... |
ORPHA:790 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:2181 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Sacral dimple, Hydrocephalus, Short neck |
ORPHA:1516 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo... |
OMIM:613686 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short neck |
ORPHA:2183 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyos... |
ORPHA:139411 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Reduced natural killer... |
OMIM:609981 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... |
OMIM:308240 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Meige Disease |
|
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Short neck |
ORPHA:251046 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne... |
OMIM:214900 |
| Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis |
OMIM:613490 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:618577 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Punctate vertebral calcifications, Hydrocephalus, Short neck |
ORPHA:1914 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... |
OMIM:616005 |
| Gorlin Syndrome |
|
Vertebral fusion, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis |
ORPHA:377 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... |
ORPHA:98849 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, Pure red cell aplasia, Erythroid hypop... |
ORPHA:124 |
| Alexander Disease Type I |
|
Hydrocephalus, Scoliosis |
ORPHA:363717 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
| Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:3162 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:2180 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Neurofibromatosis Type 1 |
|
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Abnormal form of the vertebral bodies, Abnormal sacrum morphology |
ORPHA:93262 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... |
OMIM:613101 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Platyspondyly, Ventriculomegaly |
ORPHA:2655 |
| Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
| Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary prolac... |
ORPHA:276152 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Scoliosis |
ORPHA:99947 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... |
OMIM:602347 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Scoliosis |
OMIM:617542 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia |
OMIM:618398 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Vertebral compression fracture, Scoliosis |
OMIM:112240 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st... |
ORPHA:1572 |
| Temple Syndrome |
|
Hydrocephalus, Scoliosis |
ORPHA:254516 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Abnormal vertebral morphology, Hemivertebrae, Holoprosencephaly |
ORPHA:77298 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
| Pudendal Neuralgia |
|
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Abnormal intervertebral disk morphology |
ORPHA:2701 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616355 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Pyloric stenosis |
ORPHA:664 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Abnormality of the vertebral column, Ventriculomegaly |
OMIM:109120 |
| Bresek Syndrome |
|
Hydrocephalus, Hemivertebrae, Scoliosis |
ORPHA:85284 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Hydrocephalus, Thoracic scoliosis, Ventriculomegaly |
OMIM:603387 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
| Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... |
OMIM:600145 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616362 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Cleft palate |
ORPHA:33001 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhe... |
ORPHA:75233 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elev... |
ORPHA:3261 |
| Diabetic Embryopathy |
|
Abnormal sacrum morphology, Vertebral segmentation defect, Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abnormal lymph... |
ORPHA:39041 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Parathyro... |
ORPHA:99880 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia |
ORPHA:169090 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Ventriculomegaly |
OMIM:617866 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Platyspondyly |
OMIM:300863 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Multiple myeloma, Anemia |
OMIM:230800 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein throm... |
ORPHA:729 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Uterine l... |
ORPHA:143 |
| 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 |
| Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Thoracolumbar kyphosis, Cer... |
ORPHA:15 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St... |
OMIM:235555 |
| Crouzon Syndrome |
|
Hydrocephalus, Abnormal sacrum morphology |
ORPHA:207 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Hydrocephalus, Ventricul... |
ORPHA:370959 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Hemivertebrae, Dandy-Walker malformation |
OMIM:220210 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Hydrocephalus, Platyspondyly, Dandy-Walker malformation, Vent... |
OMIM:618476 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Hydrocephalus, Abnormal form of the vertebral bodies, Vertebral segmentation defect, ... |
ORPHA:1834 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Temple Syndrome |
|
Hydrocephalus, Scoliosis |
OMIM:616222 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:314390 |
| Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Platyspondyly, Ventriculomegaly |
ORPHA:1860 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Cavernous hemangioma, Righ... |
OMIM:616028 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Kyphoscoliosis, Dandy-Walker malformation |
OMIM:614846 |
| 3C Syndrome |
|
Short neck, Kyphosis, Hydrocephalus, Hemivertebrae, Scoliosis, Dandy-Walker malformation, Ventric... |
ORPHA:7 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:619833 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Severe platyspondyly, Platyspondyly, Short neck |
OMIM:187600 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... |
OMIM:618935 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Short neck |
OMIM:620156 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Platyspondyly |
ORPHA:163966 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Hyd... |
OMIM:253220 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Emanuel Syndrome |
|
Sacral dimple, Kyphosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation, Ventriculomegaly |
OMIM:609029 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Spina bifida, Hydrocephalus, Prominent protruding coccyx, Abnormal form of ... |
ORPHA:2839 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Hydrocephalus, Platyspondyly |
OMIM:616294 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation, Ventriculomegaly |
OMIM:304340 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly, Short neck |
ORPHA:3376 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:475 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Scoliosis |
OMIM:617244 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly, Short neck |
OMIM:300514 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:2169 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Hydrocephalus, Meningocele, Scoliosis, Biconcave vertebra... |
OMIM:130720 |
| Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:238769 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... |
ORPHA:268810 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Achondroplasia |
|
Lumbar hyperlordosis, Hydrocephalus, Lumbar kyphosis in infancy, Spinal stenosis with reduced int... |
OMIM:100800 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Hydrocephalus, Anencephaly, Absent ... |
ORPHA:63259 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Scoliosis |
OMIM:615249 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Abnormal vertebral morphology, Scoliosis |
ORPHA:220493 |
| Emanuel Syndrome |
|
Sacral dimple, Kyphoscoliosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:96170 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:2075 |
| 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, Coronal ... |
OMIM:616007 |
| Aicardi Syndrome |
|
Hiatus hernia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Metastatic angiosarcoma... |
OMIM:304050 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Abnormal ... |
ORPHA:3412 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Dandy-Walker malformation, Short neck |
OMIM:612938 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... |
ORPHA:573278 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
| Tenorio Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616260 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Hydrocephalus, Scoliosis, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Anisospondyly, Short neck |
ORPHA:1865 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Short neck |
OMIM:612582 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Hydrocephalus, Lumbar hyperlordosis, Platyspondyly |
OMIM:616482 |
| Trisomy 17P |
|
Hydrocephalus, Scoliosis, Short neck |
ORPHA:261290 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Hydrocephalus, Scoliosis |
OMIM:619951 |
| Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scoliosis |
OMIM:620351 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Scoliosis |
ORPHA:2318 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Hemivertebrae, Scoliosis |
OMIM:104350 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Hydrocephalus |
OMIM:259700 |
| Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Neoplasm of the skin |
ORPHA:53715 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Scoliosis |
ORPHA:220497 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Scoliosis |
OMIM:612940 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:613150 |
| Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Hydrocephalus, Kyphosis, Biconcave vertebral bodi... |
OMIM:607014 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Holoprosencephaly, Scoliosis |
OMIM:253800 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Distal Triplication 15Q |
|
Kyphosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation |
ORPHA:314588 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Hydrocephalus, Cervical spine ... |
ORPHA:536467 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Short neck |
OMIM:224400 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hemivertebrae, Vertebral wedging, ... |
OMIM:109400 |
| Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... |
ORPHA:84064 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Crouzon Syndrome |
|
Hydrocephalus, Abnormality of the cervical spine |
OMIM:123500 |
| Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... |
OMIM:253200 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Spinal canal stenosis, Hypoplastic vertebral bodies, Scoliosis, Narrow vertebral i... |
OMIM:101800 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Hemivertebrae, Holoprosencephaly |
OMIM:264480 |
| Apert Syndrome |
|
Hydrocephalus, Cervical C5/C6 vertebrae fusion, Ventriculomegaly, Vertebral segmentation defect |
ORPHA:87 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Back pain, Hydrocephalus, Holoprosencephaly, Sci... |
ORPHA:2356 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Sacral dimple, Spina bifida, Short neck, Hydrocephalus, Scoliosis |
OMIM:613776 |
| Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Scoliosis |
ORPHA:1335 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Hydrocephalus |
ORPHA:3301 |
| Alexander Disease |
|
Hyperlordosis, Aqueductal stenosis, Short neck, Hydrocephalus, Kyphosis, Scoliosis |
ORPHA:58 |
| Hurler Syndrome |
|
Short neck, Hydrocephalus, Spinal canal stenosis, Scoliosis, Abnormal vertebral morphology |
ORPHA:93473 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Trisomy 1Q |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
| Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Hydrocephalus, Short neck |
OMIM:309900 |
| Tetrasomy 5P |
|
Hydrocephalus, Short neck |
ORPHA:3309 |
| Fg Syndrome Type 1 |
|
Sacral dimple, Hydrocephalus, Ventriculomegaly |
ORPHA:93932 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies |
ORPHA:579 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Kyphosis |
OMIM:616914 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, Scoliosis |
OMIM:618590 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Po... |
ORPHA:3042 |
| Cousin Syndrome |
|
Short neck, Hydrocephalus, Prominent protruding coccyx, Hydranencephaly, Anterior rounding of ver... |
OMIM:260660 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
| Monosomy 9Q22.3 |
|
Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral column, Ventriculomegaly |
ORPHA:77301 |
| Hajdu-Cheney Syndrome |
|
Kyphoscoliosis, Short neck, Hydrocephalus, Tall lumbar vertebral bodies, Cervical instability, Bi... |
OMIM:102500 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
| Kabuki Syndrome |
|
Hydrocephalus, Vertebral clefting, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosi... |
ORPHA:2322 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Short neck, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly |
OMIM:616546 |
| Lowry-Maclean Syndrome |
|
Hydrocephalus |
ORPHA:2409 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Mirage Syndrome |
|
Hydrocephalus, Scoliosis |
OMIM:617053 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Platyspondyly, Scoliosis, Short neck |
OMIM:245600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, Kyphoscoliosis, Thoracic scoliosis |
ORPHA:300570 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Abnormal coccyx morphology, Scoliosis, Dandy-Walker malformation |
ORPHA:314585 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Short neck |
OMIM:257300 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Scoliosis |
ORPHA:1454 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Hydrocephalus, Kyphosis, ... |
OMIM:602535 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hydrocephalus, Scoliosis, Abnormal vertebral segmentation and fu... |
ORPHA:90652 |
| Monosomy 18Q |
|
Atlantoaxial abnormality, Hydrocephalus, Kyphoscoliosis |
ORPHA:1600 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
| Holoprosencephaly |
|
Encephalocele, Short neck, Hydrocephalus, Abnormal form of the vertebral bodies, Spinal dysraphis... |
ORPHA:2162 |
| 17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Scoliosis, Short neck |
OMIM:115150 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Mohr Syndrome |
|
Hydrocephalus, Scoliosis |
OMIM:252100 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Hydrocephalus, Lumbar kyphosis, Thoracic kyphosis |
ORPHA:505248 |
| Medulloblastoma |
|
Back pain, Hydrocephalus |
ORPHA:616 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, C1-C2 vertebral abnormality, Scoliosis |
OMIM:182212 |
| Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Hydrocephalus, Lumbar hyperlordosis, Short neck |
OMIM:305450 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Hydrocephalus |
ORPHA:268249 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Short neck, Hydrocephalus, Hemivertebrae, Ventriculomegaly |
ORPHA:96121 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De... |
ORPHA:77293 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Scoliosis, Short neck |
ORPHA:1340 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly, Short neck |
OMIM:269860 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Hyperlordosis, Kyphosis, Scoliosis, Ventriculomegaly |
OMIM:617011 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Thoracic scoliosis, Cervical kyphosis, Spina bifida, Kyphosco... |
OMIM:114290 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Scoliosis |
ORPHA:250989 |
| Whipple Disease |
|
Hydrocephalus |
ORPHA:3452 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Scoliosis, Ventriculomegaly, Abnormal form of the vertebral bodies |
ORPHA:2462 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Scoliosis, Biconcave verte... |
ORPHA:955 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, High palate, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcuta... |
ORPHA:363700 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| Dubowitz Syndrome |
|
Sacral dimple, Hydrocephalus, Spina bifida occulta, Scoliosis |
ORPHA:235 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neopla... |
ORPHA:221 |
| Apert Syndrome |
|
Hydrocephalus, Cervical C5/C6 vertebrae fusion, Ventriculomegaly |
OMIM:101200 |
| Marden-Walker Syndrome |
|
Kyphosis, Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2461 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Hydrocephalus, Scoliosis, Spondylolisthesis... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Hydrocephalus, Scoliosis, Spondylolisthesis... |
ORPHA:363958 |
| Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormality of the vertebral column... |
ORPHA:228123 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Kyphosis, Hydrocephalus, Vertebral compression fracture, Noncommunicating hydr... |
ORPHA:666 |
| Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Scoliosis, Ventriculomegaly, Abnormal form of the vertebral bodies |
ORPHA:581 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hydrocephalus, Hypoplastic coccygeal vertebrae |
OMIM:619512 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu... |
OMIM:236670 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormality of the ver... |
ORPHA:2369 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
| Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Spina bifida occulta, Scoliosis |
OMIM:300373 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:457284 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Short neck |
ORPHA:168577 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Scoliosis, Spina bifida |
OMIM:162200 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Hypoplastic sacrum, Short neck |
OMIM:614083 |
| Jacobsen Syndrome |
|
Hydrocephalus, Holoprosencephaly, Short neck |
OMIM:147791 |
| Aymé-Gripp Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:1272 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:259720 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Mend Syndrome |
|
Kyphosis, Hydrocephalus, Sacral dimple, Dandy-Walker malformation |
ORPHA:401973 |
| Mend Syndrome |
|
Kyphosis, Hydrocephalus, Sacral dimple, Dandy-Walker malformation |
OMIM:300960 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
| Raine Syndrome |
|
Hydrocephalus, Short neck |
OMIM:259775 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
| Oeis Complex |
|
Absence of the sacrum, Myelomeningocele, Sacral segmentation defect, Hemivertebrae, Hydrocephalus |
OMIM:258040 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Abnormality of the cervical spine, Scoliosis |
OMIM:154400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
| Trisomy 8P |
|
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Short neck |
ORPHA:264450 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Abnormal vertebral morphology, Scoliosis |
ORPHA:95699 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Short neck, Hydrocephalus, A... |
OMIM:249000 |
| H Syndrome |
|
Hydrocephalus |
ORPHA:168569 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Kyphosis, Hydrocephalus, Abnormal curvature of the vertebral column, Scoliosis, Decrea... |
OMIM:619475 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Ventriculomegaly |
ORPHA:457359 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Block vertebrae, Aqueductal stenosis, Myelomeningocele, Hydrocephalus |
OMIM:306955 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:2658 |
| Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Hydrocephalus, Scoliosis |
ORPHA:261337 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, ... |
OMIM:194190 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Platyspondyly, Short neck |
ORPHA:309282 |
| 22Q11.2 Deletion Syndrome |
|
Spina bifida, Short neck, Hydrocephalus, Meningocele, Occipital myelomeningocele, Scoliosis |
ORPHA:567 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
| Neurooculorenal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly |
OMIM:620305 |
| Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
| Fanconi Anemia |
|
Hydrocephalus, Scoliosis, Ventriculomegaly, Spina bifida |
ORPHA:84 |
| Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Abnormal form of the vertebral bodies |
ORPHA:1106 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:2072 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus |
ORPHA:79282 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Hydrocephalus, Cleft vertebral arch, Colpocephaly, Platyspondyly, Lateral ventricle d... |
OMIM:210710 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Colpocephaly |
OMIM:309801 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Smith-Lemli-Opitz Syndrome |
|
Sacral dimple, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:270400 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Scoliosis, Cervical spine instability |
OMIM:609192 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus |
OMIM:311200 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus, Sacrococcygeal pilonidal abnormality |
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 |
| Fontaine Progeroid Syndrome |
|
Hydrocephalus, Scoliosis, Platyspondyly |
OMIM:612289 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus |
ORPHA:163979 |
| Cockayne Syndrome A |
|
Kyphosis, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus |
ORPHA:137675 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
| Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Scoliosis |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Scoliosis |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Scoliosis |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Scoliosis |
ORPHA:93924 |
| Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Abnormal vertebral morphology, Scoliosis |
OMIM:218600 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Costello Syndrome |
|
Hydrocephalus, Ventriculomegaly, Short neck |
OMIM:218040 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Abnormal vertebral morphology, Lateral ventricle dilatation, Scoliosis |
OMIM:147920 |
| Otopalatodigital Syndrome, Type Ii |
|
Kyphoscoliosis, Spina bifida, Short neck, Hydrocephalus, Platyspondyly, Spondylolysis |
OMIM:304120 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Hydrocephalus |
ORPHA:2556 |
| Cockayne Syndrome B |
|
Kyphosis, Normal pressure hydrocephalus |
OMIM:133540 |
| Wiedemann-Rautenstrauch Syndrome |
|
Irregular sclerotic endplates, Kyphoscoliosis, Hydrocephalus, Hypoplastic vertebral bodies, Cervi... |
ORPHA:3455 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Scoliosis, Dandy-Walker malformation, Short neck |
OMIM:264090 |
| Tetrasomy 9P |
|
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Short neck |
ORPHA:3310 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Short neck |
OMIM:208150 |
| Gaucher Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:355 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Scoliosis |
OMIM:305600 |
| Peters Plus Syndrome |
|
Sacral dimple, Short neck, Hydrocephalus, Spina bifida occulta, Ventriculomegaly |
ORPHA:709 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies |
ORPHA:580 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
OMIM:219000 |
| Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Scoliosis, Spondylolisthesis |
OMIM:610168 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mild fetal ventriculomegaly, Scoliosis |
OMIM:619841 |
| Peters-Plus Syndrome |
|
Short neck, Hydrocephalus, Hemivertebrae, Scoliosis, Ventriculomegaly |
OMIM:261540 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Scoliosis, Lateral ventricle dilatation |
OMIM:607872 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus |
ORPHA:667 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Vertebral segmentation defect, Hydrocephalus, Scoliosis, Six lumbar vertebrae |
OMIM:312870 |
| Yunis-Varon Syndrome |
|
Hydrocephalus |
ORPHA:3472 |
| 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 1 |
|
Occipital encephalocele, Block vertebrae, Hydrocephalus, Hemivertebrae, Scoliosis, Vertebral hypo... |
OMIM:164210 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation |
OMIM:619534 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Roberts-Sc Phocomelia Syndrome |
|
Hydrocephalus, Frontal encephalocele, Short neck |
OMIM:268300 |
| Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
| Hydrolethalus Syndrome 1 |
|
Dandy-Walker malformation, Anencephaly, Severe hydrocephalus |
OMIM:236680 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
