| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
| Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... |
OMIM:615631 |
| Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... |
OMIM:224120 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:617960 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus |
OMIM:125520 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619528 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... |
OMIM:301101 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis |
ORPHA:1646 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, Dandy-Walker malfor... |
OMIM:607091 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... |
ORPHA:98870 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus |
OMIM:129850 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosp... |
OMIM:610333 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased CSF lactate, Anisocytosis |
OMIM:604273 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Congenital Toxoplasmosis |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Hydrocephalus,... |
ORPHA:858 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
| Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Patent ductus arteriosus, Peripheral retinal atrophy, Retinal dystrophy |
OMIM:615147 |
| Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hydrocephalus, Hepatomegaly |
ORPHA:163596 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventriculomegaly, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Mic... |
OMIM:618278 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... |
OMIM:620356 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... |
OMIM:607361 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus |
ORPHA:141333 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Isochromosomy Yq |
|
Azoospermia, Male infertility |
ORPHA:98798 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:303350 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Conge... |
OMIM:619111 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm... |
ORPHA:398124 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Ventricular Septal Defect 3 |
|
Patent ductus arteriosus |
OMIM:614432 |
| Nephronophthisis 18 |
|
Cholestasis, Portal fibrosis, Hydrocephalus |
OMIM:615862 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Hydrocephalus |
OMIM:269920 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Cholestasis, Splenomegaly, Hydrocephalus, He... |
OMIM:615630 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Premature ovarian insuf... |
ORPHA:79239 |
| Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility |
OMIM:620103 |
| Griscelli Syndrome |
|
Hepatitis, Leukopenia, Splenomegaly, Encephalocele, Hydrocephalus, Thrombocytopenia, Hepatomegaly... |
ORPHA:381 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Ventriculomegaly, Hydrocephalus |
OMIM:602501 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Increased mean corpuscular volume, Abnormality of the liver, Pancytopenia, Macr... |
ORPHA:2169 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... |
OMIM:616034 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Hydrocephalus |
OMIM:601794 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hydrocephalus, Thrombocytopenia, ... |
OMIM:259710 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Hydrocephalus |
OMIM:304100 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Pancytope... |
OMIM:614576 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Nasu-Hakola Disease |
|
Ventriculomegaly, Acute leukemia, Hydrocephalus |
ORPHA:2770 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Hydrocephalus |
OMIM:248000 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| B4Galt1-Cdg |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hydrocephalus, Hepatomegal... |
ORPHA:79332 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618577 |
| Krabbe Disease |
|
Increased CSF protein concentration, Autoimmune thrombocytopenia, Hydrocephalus |
OMIM:245200 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal... |
OMIM:611134 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Occipital encephalocele, Absent gallbladder, Hepatic cysts, Hydrocephalus, Anen... |
OMIM:612284 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:272 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Anemia, Hydroce... |
OMIM:619377 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Ventriculomegaly, Stillbirth, Extramedullary hematopoiesis, Hepatosplenomegaly, ... |
OMIM:259720 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:613153 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hydrocephalus, Thrombocytopenia, Hepatomegaly |
OMIM:259700 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Abnormal sperm motility, Female infertility, Polysplenia, Hydrocephalus, Asplen... |
ORPHA:244 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Triploidy |
|
Abnormality of the gallbladder, Hydrocephalus, Hepatomegaly, Meningocele, Holoprosencephaly, Abno... |
ORPHA:3376 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Oligozoospermia, Male infertility |
ORPHA:3000 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele |
ORPHA:93274 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
| Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618086 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Hydrocephalus, Abnormal leukocyte morphology |
ORPHA:53 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
| Functioning Gonadotropic Adenoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Amenorrhea, Hydrocephalus, Oligozoos... |
ORPHA:91348 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly |
OMIM:272200 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Ciliary Dyskinesia, Primary, 18 |
|
Abdominal situs ambiguus, Immotile sperm, Male infertility |
OMIM:614874 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated circulating hepatic transaminase concentration, Occipital encephalocele, Portal hyperten... |
ORPHA:1454 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Polysplenia, Male infertility |
OMIM:613807 |
| Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Aplastic anemia, Hypogonadism, Hydrocephalus, Thrombocytopenia, Hypergonadotrop... |
OMIM:300514 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| 47,Xyy Syndrome |
|
Azoospermia, Hydrocephalus, Oligozoospermia, Male infertility |
ORPHA:8 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly |
ORPHA:1908 |
| Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:175700 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility |
OMIM:617091 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Spermatogenic Failure 13 |
|
Azoospermia, Male infertility |
OMIM:615841 |
| Whipple Disease |
|
Splenomegaly, Anemia, Hydrocephalus, Hepatomegaly, Erectile dysfunction |
ORPHA:3452 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hydrocephalus, Thrombocytopenia, Anemia, Hypoplastic spleen, Hypergonado... |
OMIM:617053 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2655 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Oligozoospermia, Male infertility |
ORPHA:48 |
| Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Bresek Syndrome |
|
Hydrocephalus, Neonatal death |
ORPHA:85284 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Hydrocephalus |
OMIM:617244 |
| Adams-Oliver Syndrome |
|
Leukopenia, Portal hypertension, Encephalocele, Congenital hepatic fibrosis, Cirrhosis, Hydroceph... |
ORPHA:974 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616362 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Hydrocephalus |
OMIM:218350 |
| Williams-Beuren Region Duplication Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:609757 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus |
ORPHA:370959 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Communicating hydrocephalus |
ORPHA:2268 |
| Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616355 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
| Myopathy, Centronuclear, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:225790 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Elevated circulating asp... |
OMIM:613154 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus |
OMIM:109120 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Abdominal situs inversus, Male infertility |
OMIM:619607 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic f... |
OMIM:614886 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
OMIM:619833 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus, Male infertility |
OMIM:244400 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus, Abnormality of the pancreas |
ORPHA:1926 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Thrombocytopenia |
ORPHA:1237 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Emanuel Syndrome |
|
Ventriculomegaly, Hypogonadism, Hydrocephalus, Infertility, Dandy-Walker malformation |
ORPHA:96170 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Hydrocephalus, Pancytopenia, Splenomegaly |
OMIM:231005 |
| Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Hydrocephalus, Splenomegaly |
ORPHA:585 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Lateral ventricle dilatation, Splenomegaly, Anemia, Hydrocephalus, Hepatomegaly |
OMIM:612301 |
| H Syndrome |
|
Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Azoospermia, Amenorrhea, Hydrocephalus, Hist... |
ORPHA:168569 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility |
OMIM:277180 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormality of the liver, Hydrocephalus |
ORPHA:1834 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Increased CSF lactate, Leukocytosis, Hydrocephalus, Hyperglycorrhachia |
ORPHA:90065 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Hepatosplenomegaly, Jaundice, Co... |
ORPHA:168577 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia, Hydrocephalus |
ORPHA:2720 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus |
OMIM:615219 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Pancreatitis, Hydrocephalus, Thrombocyt... |
ORPHA:499009 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
OMIM:620156 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hydrocephalus |
OMIM:602361 |
| Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus |
ORPHA:2075 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Hepatosplenomegaly, Hydrocephalus |
ORPHA:93400 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:603387 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Hydrocephalus, Hepatosplenomegaly, Splenomegaly |
OMIM:309900 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... |
ORPHA:247691 |
| Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Neonatal death |
OMIM:187600 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Emanuel Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:609029 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:304340 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1647 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Pentalogy Of Cantrell |
|
Polysplenia, Absent gallbladder, Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Joubert Syndrome 14 |
|
Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation |
OMIM:614424 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Hydrocephalus, Neutropenia, Thrombocyt... |
OMIM:227646 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:60040 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Hydrocephalus, Neonatal death |
OMIM:616482 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hypogonadism, Ventriculomegaly, Dilated third ventricle, Hydrocephalus |
ORPHA:500055 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| 3C Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:7 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Hypogonadism, Hepatosplenomegaly, Anemia, Oligozoospermia, Hepatomegaly... |
ORPHA:85450 |
| Hydrolethalus |
|
Anencephaly, Hydrocephalus |
ORPHA:2189 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Neutropenia, Thrombocyto... |
OMIM:227650 |
| Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Hydrocephalus |
ORPHA:2409 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617822 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:217090 |
| Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Splenomegaly, Neonatal death, Hydrocephalus, Hepatomegaly, Holoprosencephaly... |
OMIM:269860 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Ventriculomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification, Hydrocephalus, Hepat... |
ORPHA:228308 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Neonatal death |
OMIM:314390 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... |
OMIM:619895 |
| Thanatophoric Dysplasia Type 1 |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:1860 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus |
OMIM:617866 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:238769 |
| Dextrocardia |
|
Hydrocephalus, Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
| Trisomy 1Q |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:261344 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Hydrocephalus |
OMIM:619951 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Hydrocephalus |
ORPHA:77298 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| Coccidioidomycosis |
|
Increased CSF protein concentration, Hypoglycorrhachia, Abnormality of the spleen, Abnormality of... |
ORPHA:228123 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Hydrocephalus |
OMIM:219730 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic failure, Hydrocephalus, Hepatic calcification |
ORPHA:157 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Walker-Warburg Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:899 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614969 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:59315 |
| Hurler Syndrome |
|
Hepatomegaly, Hydrocephalus, Hepatosplenomegaly, Splenomegaly |
OMIM:607014 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Trisomy 17P |
|
Hydrocephalus |
ORPHA:261290 |
| Tenorio Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616260 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus, Neonatal death |
OMIM:620351 |
| Meckel Syndrome |
|
Accessory spleen, Encephalocele, Congenital hepatic fibrosis, Hydrocephalus, Pancreatic fibrosis,... |
ORPHA:564 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Hydrocephalus, Thrombocytopenia, Neutropenia, Hepatomegaly |
OMIM:277400 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Ventriculomegaly, Abnormality of the spleen, Hepatosplenomegaly... |
ORPHA:2072 |
| Peho Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2836 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly, Splenomegaly |
ORPHA:35107 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Encephalocele |
ORPHA:2318 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Hydrocephalus, Splenomegaly |
OMIM:253220 |
