| Prostatic Hyperplasia, Benign |
|
Benign prostatic hyperplasia |
OMIM:600082 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation |
OMIM:607091 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... |
ORPHA:572 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Holoprosencephaly, Meningocele, Elevated circulating creatine kinase concentration |
ORPHA:588 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio... |
ORPHA:85451 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly |
ORPHA:85447 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... |
OMIM:614702 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Decreased... |
OMIM:616034 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration |
OMIM:613155 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, F... |
ORPHA:42 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation, Ven... |
OMIM:613153 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration |
OMIM:615181 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Coach Syndrome 2 |
|
Hydrocephalus, Elevated circulating creatinine concentration |
OMIM:619111 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
| B4Galt1-Cdg |
|
Hydrocephalus, Decreased LDL cholesterol concentration, Elevated circulating creatine kinase conc... |
ORPHA:79332 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Lateral vent... |
OMIM:613154 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulating ferritin concent... |
ORPHA:465508 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Elevated circulating creatine kinase concentra... |
ORPHA:370959 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt... |
ORPHA:79330 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Temple Syndrome |
|
Hypercholesterolemia, Hydrocephalus, Hypertriglyceridemia |
OMIM:616222 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ... |
ORPHA:168558 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ... |
ORPHA:289548 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration |
OMIM:615249 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly |
OMIM:616538 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Hypocalcemia, Aplasia of the uterus,... |
ORPHA:2237 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Elevated circulating creatine kinase concentration, Right ventricular... |
ORPHA:268 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
OMIM:608836 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Hypocalcemia |
ORPHA:53 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Hydrocephalus |
OMIM:620157 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Hydrocephalus, Ventriculomegaly, Hyperhomocystinemia |
ORPHA:2169 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Abnormal circulating lipid concentration |
ORPHA:381 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... |
OMIM:137920 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hydrocephalus, Hyperbilirubinemia |
OMIM:614886 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Abnormal circulating creatine kinase concentration, Ventriculomegaly, Dandy-Walker... |
ORPHA:899 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Pontocerebellar Hypoplasia Type 7 |
|
Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy,... |
ORPHA:284339 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Ventriculomegaly, Hypocalcemia, Dandy-Walker malformation |
OMIM:618476 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalu... |
OMIM:614643 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Hypocalcemia |
OMIM:602361 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly |
OMIM:613150 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Elevated circulating creatine kinase concentration |
OMIM:253800 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
| Emanuel Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:609029 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus |
ORPHA:3320 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Ventriculomegaly |
ORPHA:395 |
| Von Hippel-Lindau Disease |
|
Papilledema, Myocarditis, Papillary cystadenoma of the epididymis, Cardiomyopathy, Epididymal cyst |
ORPHA:892 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| 3C Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:7 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
| Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Emanuel Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:96170 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Hypocalcemia |
OMIM:259700 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| Hypoplasminogenemia |
|
Hydrocephalus, Decreased level of plasminogen, Dandy-Walker malformation |
ORPHA:722 |
| Trisomy 1Q |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea... |
OMIM:615287 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus, Mildly elevated creatine kinase |
OMIM:620351 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
| Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... |
ORPHA:90794 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co... |
ORPHA:14 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Trisomy 17P |
|
Hydrocephalus |
ORPHA:261290 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Hydrocephalus |
OMIM:620155 |
| Desmosterolosis |
|
Abnormal circulating cholesterol concentration, Hydrocephalus, Elevated circulating desmosterol c... |
OMIM:602398 |
| Lowry-Maclean Syndrome |
|
Hydrocephalus |
ORPHA:2409 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Leukocytosis,... |
ORPHA:544482 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Me... |
OMIM:236670 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries |
ORPHA:137675 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
| Mirage Syndrome |
|
Hyponatremia, Hydrocephalus, Hyperkalemia |
OMIM:617053 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Osteootohepatoenteric Syndrome |
|
Hypokalemia, Hydrocephalus, Increased serum bile acid concentration |
OMIM:619377 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Fatigable weaknes... |
ORPHA:365 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
| Fg Syndrome Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:93932 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
| Whipple Disease |
|
Hyponatremia, Hydrocephalus |
ORPHA:3452 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia |
OMIM:277400 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Fatigable weakness of swallowing muscles... |
ORPHA:581 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220493 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus |
ORPHA:1865 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Ventriculomegaly, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
| Tetrasomy 5P |
|
Hydrocephalus |
ORPHA:3309 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... |
OMIM:619991 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Distal Triplication 15Q |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Atrial septal defect, Mesoca... |
OMIM:136140 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele |
OMIM:130720 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:616546 |
| Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:613776 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus |
ORPHA:3301 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Epididymal cyst, Atrial sep... |
ORPHA:2044 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:257300 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus |
OMIM:309900 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Hypocalcemic seizures, Lateral ventricle dilatation |
OMIM:612301 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Hyperphosphatemia |
OMIM:101800 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hydrocephalus, Hyperammonemia, Elevated circulating pa... |
ORPHA:79282 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
| H Syndrome |
|
Hydrocephalus, Hypertriglyceridemia |
ORPHA:168569 |
| Holoprosencephaly |
|
Hyponatremia, Encephalocele, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Dandy-Walker ma... |
ORPHA:2162 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Hypoglycorrhachia, Communicating hydrocephalus |
ORPHA:168577 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus |
OMIM:115150 |
| Hurler Syndrome |
|
Hydrocephalus |
OMIM:607014 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus |
OMIM:253220 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus |
OMIM:616007 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Hypocalcemia |
ORPHA:2306 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
| Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia |
OMIM:181000 |
| Monosomy 18Q |
|
Hydrocephalus |
ORPHA:1600 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Hypoalbuminemia |
ORPHA:505248 |
| 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 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
| Raine Syndrome |
|
Hydrocephalus, Hypophosphatemia |
OMIM:259775 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly |
ORPHA:97297 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Hydrocephalus, Aqueductal stenosis, Ventriculomegaly |
OMIM:620305 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
ORPHA:90652 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, C... |
ORPHA:116 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
| Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Hepatosplenomegaly, Aplasia of the uterus, Atrial septal defect, Atrio... |
OMIM:274000 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus |
ORPHA:1340 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly |
ORPHA:51 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus |
OMIM:182212 |
| Mend Syndrome |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... |
OMIM:249000 |
| Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus |
ORPHA:579 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:96121 |
| Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... |
ORPHA:228123 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Hypoplasia of penis, Overriding aorta, Bicuspid aortic valve, Hy... |
ORPHA:904 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
| Hurler Syndrome |
|
Hydrocephalus |
ORPHA:93473 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:250989 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:619512 |
| Opitz-Kaveggia Syndrome |
|
Hydrocephalus |
OMIM:305450 |
| Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Marshall-Smith Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602535 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
| Jacobsen Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Aymé-Gripp Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus |
ORPHA:536467 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Colpocephaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentra... |
OMIM:270400 |
| Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus |
OMIM:253200 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus |
ORPHA:268249 |
| Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Spina bifida occulta |
OMIM:300373 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus |
ORPHA:1780 |
| Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Colpocephaly |
OMIM:309801 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:2462 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Abn... |
OMIM:236680 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased CSF 5-methyltetrahydrofolate concentration, Hydrocephalus, Ventriculomegaly, Hyperbilir... |
OMIM:619475 |
| 22Q11.2 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Hypocalcemia |
ORPHA:567 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly |
OMIM:253280 |
| 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 |
| Kabuki Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus |
OMIM:311200 |
| Trisomy 8P |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:264450 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus |
ORPHA:95699 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus |
OMIM:227646 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
| Gaucher Disease |
|
Hydrocephalus, Ventriculomegaly, Elevated circulating C-reactive protein concentration |
ORPHA:355 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
| Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus |
ORPHA:955 |
| Fanconi Anemia |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:84 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Marden-Walker Syndrome |
|
Hydrocephalus |
ORPHA:2461 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Hydrocephalus |
OMIM:619321 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus |
OMIM:102500 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus... |
OMIM:194190 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... |
OMIM:135900 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
| Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
| Osteogenesis Imperfecta |
|
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly |
ORPHA:666 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Colpocephaly, Hydrocephalus, Hyperbilirubinemia, Lateral ventricle dilatation |
OMIM:210710 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus |
ORPHA:309282 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus |
ORPHA:2658 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261337 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
| Meningioma |
|
Hydrocephalus |
ORPHA:2495 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus |
ORPHA:221120 |
| Microphthalmia With Limb Anomalies |
|
Hydrocephalus |
ORPHA:1106 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2072 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Hydrocephalus, Aqued... |
OMIM:619534 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
OMIM:219000 |
| Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Costello Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218040 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
| Fontaine Progeroid Syndrome |
|
Hydrocephalus |
OMIM:612289 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Hypertriglyceridemia, Dandy-Walker malformation |
OMIM:264090 |
| 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 |
| Cockayne Syndrome B |
|
Normal pressure hydrocephalus |
OMIM:133540 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele |
OMIM:305600 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Tetrasomy 9P |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:3310 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Mitral valve prolapse, H... |
ORPHA:286 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus |
ORPHA:636 |
| Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta |
OMIM:218600 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mild fetal ventriculomegaly |
OMIM:619841 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus |
OMIM:208150 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Elevated circulating creatine kinase concentration |
OMIM:175780 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hypophosph... |
ORPHA:51608 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:607872 |
| Peters Plus Syndrome |
|
Hydrocephalus, Spina bifida occulta, Ventriculomegaly |
ORPHA:709 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Hypertriglyceridemia |
ORPHA:3455 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus |
ORPHA:580 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus |
ORPHA:363700 |
| Norrie Disease |
|
Cryptorchidism, Optic atrophy, Uterine rupture |
ORPHA:649 |
| Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
| Peters-Plus Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:261540 |
| Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia majora, ... |
OMIM:601803 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Spina bifida |
OMIM:304120 |
| Coffin-Siris Syndrome 12 |
|
Noncommunicating hydrocephalus |
OMIM:619325 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus |
OMIM:312870 |
| Roberts-Sc Phocomelia Syndrome |
|
Hydrocephalus, Frontal encephalocele |
OMIM:268300 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |
