Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Ventriculomegaly |
OMIM:610333 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Lymphadenopathy |
ORPHA:858 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hydrocephalus |
ORPHA:163596 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... |
OMIM:615559 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hydrocephalus |
OMIM:269920 |
Griscelli Syndrome |
|
Encephalocele, Splenomegaly, Hydrocephalus, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:381 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
B4Galt1-Cdg |
|
Splenomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hydrocephalus |
OMIM:602361 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Roifman Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Splenomegaly, Thymus hyperplasia, Hydrocephalus |
ORPHA:2969 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Leishmaniasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:507 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Bone marrow hypocellularity |
OMIM:617244 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Splenomegaly, Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy |
OMIM:603909 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Hepatosplenomegaly |
OMIM:259710 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ventriculomegaly, Lymphadenopathy |
OMIM:304790 |
Primary Ciliary Dyskinesia |
|
Asplenia, Hydrocephalus, Ventriculomegaly, Polysplenia |
ORPHA:244 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Neonatal Lupus Erythematosus |
|
Splenomegaly, Hydrocephalus |
ORPHA:398124 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Increased CSF protein concentration, CSF pleocytosis, Lymphadenopathy |
OMIM:267700 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Whipple Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Hydrocephalus |
ORPHA:3452 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Hydrocephalus |
ORPHA:1834 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hydrocephalus |
ORPHA:585 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
CSF pleocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Increased CSF protein concent... |
OMIM:603553 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Hydrocephalus |
OMIM:259700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Polysplenia |
ORPHA:1335 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, CSF pleocytosis, Lymphadenopathy |
ORPHA:540 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy |
ORPHA:97289 |
Omenn Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy |
ORPHA:160 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Felty Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Emanuel Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:609029 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Hydrocephalus |
OMIM:231005 |
Cinca Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Hepatosplenomegaly |
ORPHA:93400 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus |
OMIM:244400 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Mucopolysaccharidosis, Type Ii |
|
Splenomegaly, Hydrocephalus, Hepatosplenomegaly |
OMIM:309900 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
Dextrocardia |
|
Abnormality of the spleen, Hydrocephalus |
ORPHA:1666 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
3C Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:7 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Emanuel Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:96170 |
Hurler Syndrome |
|
Splenomegaly, Hydrocephalus, Enlarged tonsils, Hepatosplenomegaly |
OMIM:607014 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
H Syndrome |
|
Hydrocephalus, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:168569 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Desmosterolosis |
|
Splenomegaly, Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Trisomy 1Q |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Legionnaires Disease |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:549 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Coccidioidomycosis |
|
Abnormality of the spleen, Hydrocephalus, Mediastinal lymphadenopathy, CSF pleocytosis, Lymphaden... |
ORPHA:228123 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Mirage Syndrome |
|
Hypoplastic spleen, Hydrocephalus |
OMIM:617053 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:809 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Hydrocephalus, Abnormality of the tonsils |
ORPHA:579 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Hydrocephalus, Lymphadenopathy |
ORPHA:538 |
Knobloch Syndrome |
|
Lymphangioma, Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Osteopetrosis, Autosomal Recessive 5 |
|
Splenomegaly, Hydrocephalus, Ventriculomegaly, Hepatosplenomegaly |
OMIM:259720 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Joubert Syndrome With Hepatic Defect |
|
Splenomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Trisomy 17P |
|
Hydrocephalus |
ORPHA:261290 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Lowry-Maclean Syndrome |
|
Hydrocephalus |
ORPHA:2409 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:610377 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:615895 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Hurler Syndrome |
|
Splenomegaly, Hydrocephalus, Abnormality of the tonsils |
ORPHA:93473 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Fg Syndrome Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:93932 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Abnormality of the lymphatic system |
ORPHA:137667 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Hydrocephalus |
OMIM:253220 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Splenomegaly |
OMIM:616084 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Stromme Syndrome |
|
Accessory spleen, Hydrocephalus |
OMIM:243605 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia, Ventriculomegaly |
OMIM:619418 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220493 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Short-Rib Thoracic Dysplasia 12 |
|
Splenomegaly, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617591 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus |
ORPHA:1865 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Tetrasomy 5P |
|
Hydrocephalus |
ORPHA:3309 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Hydrocephalus |
OMIM:115150 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Splenic cyst |
OMIM:618188 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy |
ORPHA:520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Distal Triplication 15Q |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy |
ORPHA:139402 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Asplenia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, D... |
ORPHA:564 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy |
ORPHA:2035 |
Cryptococcosis |
|
Mediastinal lymphadenopathy, Hydrocephalus |
ORPHA:1546 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Hepatosplenomegaly |
ORPHA:168577 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:93552 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus |
OMIM:620351 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele |
OMIM:130720 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Holoprosencephaly |
|
Encephalocele, Abnormality of the spleen, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Da... |
ORPHA:2162 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:50918 |
Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:613776 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:257300 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Lymphadenopathy |
ORPHA:33226 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus |
ORPHA:3301 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Splenomegaly, Hydrocephalus, Recurrent tonsillitis, Ventriculomegaly |
ORPHA:581 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:616546 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Asplenia, ... |
OMIM:249000 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hydrocephalus, Lymphadenopathy |
ORPHA:667 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Bone marrow hypocellularity, Hepatosplenomegaly |
ORPHA:505248 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:214500 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu... |
OMIM:236670 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:602782 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Hydrocephalus, Cervical myelopathy |
OMIM:253200 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus |
OMIM:616007 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
Poems Syndrome |
|
Lymphadenopathy |
ORPHA:2905 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
Monosomy 18Q |
|
Hydrocephalus |
ORPHA:1600 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Q Fever |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:781 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly |
ORPHA:31150 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Bone marrow hypocellularity |
OMIM:614083 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
ORPHA:90652 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Cardiofaciocutaneous Syndrome |
|
Hydrocephalus |
ORPHA:1340 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Polysplenia |
OMIM:306955 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Hennekam Syndrome |
|
Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy |
ORPHA:2136 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus |
OMIM:182212 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
Selective Igm Deficiency |
|
Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Abnormality of the spleen, Hydrocephalus, Hepatosplenomegaly, Ventriculomegaly |
ORPHA:2072 |
Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:96121 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy |
OMIM:607944 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615688 |
22Q11.2 Deletion Syndrome |
|
Abnormality of the tonsils, Spina bifida, Splenomegaly, Hydrocephalus, Meningocele, Occipital mye... |
ORPHA:567 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Bone marrow hypocellularity |
OMIM:227646 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37042 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:619512 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:250989 |
Opitz-Kaveggia Syndrome |
|
Hydrocephalus |
OMIM:305450 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
Marshall-Smith Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602535 |
Tetraamelia Syndrome 1 |
|
Asplenia, Hydrocephalus |
OMIM:273395 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... |
ORPHA:3261 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Jacobsen Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
Aymé-Gripp Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
Immunodeficiency 31C |
|
Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:167 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus |
ORPHA:536467 |
Hajdu-Cheney Syndrome |
|
Splenomegaly, Hydrocephalus |
ORPHA:955 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Raine Syndrome |
|
Hydrocephalus |
OMIM:259775 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Spina bifida occulta |
OMIM:300373 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
Pseudoaminopterin Syndrome |
|
Asplenia, Hydrocephalus |
ORPHA:221120 |
Neurooculorenal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly |
OMIM:620305 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus |
ORPHA:268249 |
Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus |
ORPHA:1780 |
Smith-Lemli-Opitz Syndrome |
|
Splenomegaly, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:270400 |
Cockayne Syndrome A |
|
Splenomegaly, Thymic hormone decreased, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:2462 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus |
ORPHA:79282 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Colpocephaly |
OMIM:309801 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Hepatosplenomegaly |
ORPHA:309282 |
Gaucher Disease |
|
Splenomegaly, Hydrocephalus, Ventriculomegaly |
ORPHA:355 |
Familial Mediterranean Fever |
|
Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Abnormal thymus morphology, Hydrocephalus |
OMIM:219000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:363958 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus |
ORPHA:95699 |
Trisomy 8P |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:264450 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus |
OMIM:311200 |
Kabuki Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
Costello Syndrome |
|
Hydrocephalus, Lymphangiectasis, Ventriculomegaly |
OMIM:218040 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy |
ORPHA:100078 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Sarcoidosis |
|
Abnormal lymph node morphology, Increased CSF protein concentration, Abnormal cerebrospinal fluid... |
ORPHA:797 |
Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly |
OMIM:619475 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Fanconi Anemia |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:84 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus |
ORPHA:163979 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Marden-Walker Syndrome |
|
Hydrocephalus |
ORPHA:2461 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus |
ORPHA:137675 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus |
OMIM:102500 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Splenomegaly, Enlarged tonsils |
ORPHA:580 |
Cockayne Syndrome B |
|
Splenomegaly, Normal pressure hydrocephalus |
OMIM:133540 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy |
ORPHA:449432 |
Osteogenesis Imperfecta |
|
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly |
ORPHA:666 |
Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hydrocephalus, Ventriculomegaly |
OMIM:194190 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus |
ORPHA:2658 |
Brucellosis |
|
Hypersplenism, Splenomegaly, Lymphadenopathy |
ORPHA:1304 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules, Pulmonary lymphangiomyomatosis |
ORPHA:805 |
Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261337 |
Behçet Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:117 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Hypoplasia of the thymus, Dandy-Walker malformation |
OMIM:264090 |
Meningioma |
|
Hydrocephalus |
ORPHA:2495 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus |
ORPHA:1106 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Colpocephaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:210710 |
Immunodeficiency 82 With Systemic Inflammation |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619381 |
Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:536 |
African Trypanosomiasis |
|
Splenomegaly, Myelopathy, Hepatosplenomegaly, Lymphadenopathy, Ventriculomegaly |
ORPHA:3385 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Dandy-Walker malformation, Anencephaly, Severe hydrocephalus |
OMIM:236680 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
Fontaine Progeroid Syndrome |
|
Hydrocephalus |
OMIM:612289 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus |
ORPHA:2556 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93924 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:256040 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy |
ORPHA:79078 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Lymphadenopathy |
ORPHA:449395 |
Igg4-Related Ophthalmic Disease |
|
Lymphadenopathy |
ORPHA:449563 |
Oeis Complex |
|
Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Crimean-Congo Hemorrhagic Fever |
|
Splenomegaly, Lymphadenopathy |
ORPHA:99827 |
Primary Sjögren Syndrome |
|
Lymphadenopathy |
ORPHA:289390 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele |
OMIM:305600 |
Blau Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:90340 |
Tetrasomy 9P |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:3310 |
Yunis-Varon Syndrome |
|
Hydrocephalus |
ORPHA:3472 |
Marburg Hemorrhagic Fever |
|
Lymphadenopathy |
ORPHA:99826 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus |
OMIM:619321 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta |
OMIM:218600 |
Neurofibromatosis Type 1 |
|
Hydrocephalus |
ORPHA:636 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mild fetal ventriculomegaly |
OMIM:619841 |
Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus |
OMIM:208150 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Splenomegaly, Hydrocephalus, Polysplenia |
OMIM:312870 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:619534 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:607872 |
Peters Plus Syndrome |
|
Hydrocephalus, Spina bifida occulta, Ventriculomegaly |
ORPHA:709 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the thymus, Abnormal lymph node morphology |
ORPHA:99889 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus |
ORPHA:363700 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus |
ORPHA:3455 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hydrocephalus, Frontal encephalocele |
OMIM:268300 |
Peters-Plus Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:261540 |
Leptospirosis |
|
Lymphadenopathy |
ORPHA:509 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Spina bifida |
OMIM:304120 |
Coffin-Siris Syndrome 12 |
|
Noncommunicating hydrocephalus |
OMIM:619325 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Ventriculomegaly |
OMIM:619743 |