| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| 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 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| 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 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| 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 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| 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 |
| 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 |
| 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 |
| 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 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| 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 |
| 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 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Inguinal hernia, Male infertility |
OMIM:261550 |
| 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 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| 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 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| 1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Arthrogryposis multiplex congenita, Hydrocephalus |
ORPHA:250994 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Multiple lipomas, Hydrocephalus, Lipoma, Anencephaly |
OMIM:182940 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressive sperm motility, Short ... |
OMIM:620438 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Congenital Hydrocephalus |
|
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventriculomegaly, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic... |
OMIM:618052 |
| Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Omphalocele |
OMIM:258320 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Flexion contracture, Hydrocephalus |
OMIM:300884 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:618948 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| 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 |
| 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 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... |
OMIM:620356 |
| 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 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Impotence, Cardiomyopathy |
ORPHA:85447 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus, Omphalocele |
ORPHA:945 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Ventriculomegaly, Cardiomegaly, Hydrocephalus |
ORPHA:858 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| 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 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Hepatosplenomegaly, Splenomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus, ... |
OMIM:610333 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Frontal encephalocele |
ORPHA:261102 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Hydrocephalus |
OMIM:619470 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| 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 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hernia, Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Male infertility |
OMIM:300991 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Hydrocephalus, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Enamel hypoplasia |
OMIM:613576 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Flexion contracture, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Dilated cardiomyopathy, Camptodactyly of finger, Hydrocephalus, Flexion contrac... |
ORPHA:272 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Ventriculomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate, Ca... |
OMIM:619051 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect |
OMIM:147800 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
| 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 |
| 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 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal h... |
ORPHA:244 |
| Vacterl Association With Hydrocephalus |
|
Abnormal heart morphology, Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhe... |
OMIM:235200 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Hernia of the abdominal wall, Communicating hydrocephalus, Anomalous pulmona... |
ORPHA:2184 |
| Mulibrey Nanism |
|
Ventriculomegaly, Cardiomegaly, Enamel hypoplasia, Pericardial constriction, Hepatomegaly, Myocar... |
OMIM:253250 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus |
OMIM:619301 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Ventriculomegaly, Umbilical hernia, Abnormal heart morphology, Ing... |
OMIM:175700 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Hydrocephalus, Splenomegaly, Pericarditis |
ORPHA:163596 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:619607 |
| Nasu-Hakola Disease |
|
Ventriculomegaly, Abnormal adipose tissue morphology, Hydrocephalus |
ORPHA:2770 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| 6P22 Microdeletion Syndrome |
|
Hernia, Hydrocephalus |
ORPHA:251046 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Meningocele, Anenc... |
OMIM:611134 |
| Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility |
OMIM:620103 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Left ventricular hypertrophy, Hydrocephalus, Dandy-Walker malformation |
OMIM:613153 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Umbilical hernia |
ORPHA:1516 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Hydrocephalus |
OMIM:243440 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... |
ORPHA:1908 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... |
OMIM:616034 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Thanatophoric Dysplasia Type 2 |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly |
ORPHA:93274 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Tetralogy of Fallot, Atrioventri... |
ORPHA:7 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Hydrocephalus |
OMIM:601794 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Hydrocephalus |
OMIM:304100 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, Cardiomegaly, S... |
OMIM:620609 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Hydrocephal... |
OMIM:313850 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Aq... |
OMIM:306955 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventriculomegaly, Splenomegaly, Ventricular septal defect, Hydrocephalus, Hepatomegaly |
OMIM:615630 |
| Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect... |
OMIM:613001 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Knee flexion contracture, Ventricular septal defect, Hydrocephalus, Atrial sept... |
OMIM:603387 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Splenomegaly, Inguinal hernia, Cardiomegaly, Hepatomegaly |
OMIM:256550 |
| Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Encephaloc... |
ORPHA:1335 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Hec Syndrome |
|
Communicating hydrocephalus, Endocardial fibroelastosis, Cardiomyopathy |
ORPHA:2119 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
| Ciliary Dyskinesia, Primary, 53 |
|
Dilated fourth ventricle, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembran... |
OMIM:620642 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:218350 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Hydrocephalus |
OMIM:248000 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Triploidy |
|
Hydrocephalus, Abnormal cardiac septum morphology, Omphalocele, Hepatomegaly, Meningocele, Holopr... |
ORPHA:3376 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility |
OMIM:612444 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Ventricular septal ... |
OMIM:618798 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Umbilical hernia |
ORPHA:2181 |
| Refsum Disease, Classic |
|
Cardiomegaly, Increased CSF protein concentration, Cardiomyopathy |
OMIM:266500 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Flexion contracture, Hydrocephalus |
ORPHA:99947 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Hypogonadism, Inguinal hernia, Congenital diaphragmatic ... |
ORPHA:96170 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Scarring, Hydrocephalus |
ORPHA:398189 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Umbilical hernia, Cardiomegaly, Bicuspid aortic valve, ... |
OMIM:239850 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618577 |
| Tetrasomy 15Q26 |
|
Camptodactyly, Hydrocephalus, Atrial septal defect, Dandy-Walker malformation |
OMIM:614846 |
| Ciliary Dyskinesia, Primary, 18 |
|
Immotile sperm, Situs inversus totalis, Male infertility |
OMIM:614874 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Decreased libido, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Ventri... |
OMIM:609029 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Abnormal heart morphology, Hydrocephalus, Inguinal hernia, Umbilical hernia |
OMIM:601499 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly, Atrial septal defect |
ORPHA:2655 |
| Functioning Gonadotropic Adenoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Enlarged polycystic ovaries, Amenorr... |
ORPHA:91348 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Colpocephaly, Atrial septal defect, Hydrocephalus, Right atrial enlargement, Co... |
OMIM:615219 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventriculomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion c... |
OMIM:616897 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventriculomegaly, Splenomegaly, Ventricular septal defect, Enamel hypoplasia, Atrial septal defec... |
OMIM:614576 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great art... |
ORPHA:1926 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Dextrocardia, Spina bifida, Spina bifida occulta, Posterolateral... |
ORPHA:2437 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydrocephalus, Dandy-Wa... |
OMIM:612938 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Amelogenesis imperfecta, Hydrocephalus |
ORPHA:1946 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... |
ORPHA:324410 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Situs inversus totalis, Male infertility, Reduced sperm motility |
OMIM:613807 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Oligozoospermia, Male infertility |
ORPHA:3000 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Hydrocephalus |
ORPHA:370959 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal heart morphology, Splenomegaly, Hydrocephalus, Hepatomegaly |
ORPHA:398124 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618086 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Inguinal hernia, Atrial septal defect, Hydrocephalus, Camptodactyly, Dandy... |
ORPHA:459061 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Increased CSF lactate, Cardiomegaly |
ORPHA:391428 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Umbilical hernia |
ORPHA:171839 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus, Dextrocardia, ... |
OMIM:314390 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... |
OMIM:264480 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... |
OMIM:253800 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Atrial se... |
OMIM:612582 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cardiomegaly |
ORPHA:42 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:219730 |
| B4Galt1-Cdg |
|
Hepatomegaly, Hydrocephalus, Splenomegaly, Dandy-Walker malformation |
ORPHA:79332 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Metatropic Dysplasia |
|
Hydrocephalus, Camptodactyly of finger |
ORPHA:2635 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Generalized lipodystrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Mitr... |
OMIM:616914 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal cardiac atrium morphology,... |
ORPHA:2306 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Joint contracture, Dandy-Walker malformation |
OMIM:225790 |
| Congenital Sialidosis Type 2 |
|
Umbilical hernia, Abnormal heart morphology, Hepatosplenomegaly, Inguinal hernia, Hydrocephalus, ... |
ORPHA:93400 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventri... |
OMIM:619895 |
| Mucopolysaccharidosis, Type Ii |
|
Umbilical hernia, Abnormal heart valve morphology, Hepatosplenomegaly, Inguinal hernia, Splenomeg... |
OMIM:309900 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Lateral ventricle dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmo... |
OMIM:612863 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Increased CSF protein concentration, Impotence, Cardiomyopathy |
OMIM:105210 |
| Trisomy 1Q |
|
Ventriculomegaly, Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal de... |
ORPHA:261344 |
| Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
| Distal Triplication 15Q |
|
Abnormal heart morphology, Hernia, Atrial septal defect, Hydrocephalus, Camptodactyly, Flexion co... |
ORPHA:314588 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Decreased CSF copper concentration, Ventriculomegaly, Increased CSF lactate |
OMIM:620306 |
| Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hypogonadism, Ventricular septal defect, Hydrocephalus, Hypergonadotropic hypog... |
OMIM:300514 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology |
ORPHA:2075 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:238769 |
| 47,Xyy Syndrome |
|
Azoospermia, Hydrocephalus, Oligozoospermia, Male infertility |
ORPHA:8 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| 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 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Lipoatrophy |
ORPHA:349 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility |
OMIM:617091 |
| Spermatogenic Failure 13 |
|
Azoospermia, Male infertility |
OMIM:615841 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Flexion contracture, Hydrocephalus |
OMIM:613330 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Situs inversus totalis, Hydrocephalus, Dextrocardia, Spina bifida occulta |
OMIM:613686 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Arthrogryposis multiplex congenita, Hydrocephalus, Camptodactyly, Pericardial e... |
OMIM:617822 |
| 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 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Hydrocephalus, Ventricular septal defect |
ORPHA:77298 |
| Temple Syndrome |
|
Flexion contracture, Hydrocephalus |
OMIM:616222 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Situs inversus totalis, Male infertility |
OMIM:244400 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Oligozoospermia, Male infertility |
ORPHA:48 |
| Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
| Proteus-Like Syndrome |
|
Subcutaneous lipoma, Splenomegaly, Hydrocephalus, Communicating hydrocephalus, Shagreen patch |
ORPHA:2969 |
| 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 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly |
OMIM:272200 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Ventriculomegaly, Distal arthrogryposis, Hydrocephalus |
OMIM:619833 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Azoospermia, Joint contra... |
OMIM:602782 |
| Hurler Syndrome |
|
Cardiomyopathy, Umbilical hernia, Hepatosplenomegaly, Endocardial fibroelastosis, Inguinal hernia... |
OMIM:607014 |
| Whipple Disease |
|
Splenomegaly, Hydrocephalus, Myocarditis, Hepatomegaly, Erectile dysfunction, Pericarditis |
ORPHA:3452 |
| Griscelli Syndrome |
|
Hepatomegaly, Hydrocephalus, Encephalocele, Splenomegaly |
ORPHA:381 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Increased CSF lactate, Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia |
ORPHA:90065 |
| Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616362 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility |
OMIM:614935 |
| Trisomy 17P |
|
Aortic valve stenosis, Flexion contracture, Hypoplastic left heart, Hydrocephalus |
ORPHA:261290 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Hernia, Bicusp... |
ORPHA:363705 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Colpocephaly, Congenital contracture, Hydrocephalus |
OMIM:620156 |
| Williams-Beuren Region Duplication Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:609757 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Hydrocephalus, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:2409 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Hydrocephal... |
OMIM:261740 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| H Syndrome |
|
Hypogonadism, Hepatosplenomegaly, Azoospermia, Hernia, Amenorrhea, Lipodystrophy, Hydrocephalus, ... |
ORPHA:168569 |
| Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616355 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Double outlet right ventricle, Atrial septal defect |
OMIM:614886 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Hydrocephalus |
ORPHA:2180 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Inguinal hernia, Abnormal aortic va... |
ORPHA:579 |
| Myopathy, Centronuclear, X-Linked |
|
Flexion contracture, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Flexion c... |
OMIM:613154 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Mitral valve prolaps... |
OMIM:245600 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Abnormal heart morphology, Hydrocephalus, Flexion contracture, Encephalocele |
ORPHA:1865 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus |
OMIM:109120 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
| Dextrocardia |
|
Abnormal heart morphology, Situs inversus totalis, Hydrocephalus, Dextrocardia |
ORPHA:1666 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Ventriculomegaly, Cardiomyopathy, Cardiomegaly, Abnormal myocardium morphology, Hydrocephalus, He... |
ORPHA:228308 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly, Atrial septal defect |
ORPHA:1860 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Fg Syndrome Type 1 |
|
Ventriculomegaly, Umbilical hernia, Inguinal hernia, Mitral valve prolapse, Progressive flexion c... |
ORPHA:93932 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Lateral Meningocele Syndrome |
|
Keloids, Umbilical hernia, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Hyd... |
OMIM:130720 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Flexion contracture, Dandy-Walker malformation |
OMIM:304340 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Ventriculomegaly, Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricul... |
OMIM:620066 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridi... |
OMIM:309801 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Congenital diaphragmatic hernia, Dandy-Walker malformation |
ORPHA:1647 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Hurler Syndrome |
|
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto... |
ORPHA:93473 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ventriculomegaly, Dilated cardiomyopathy, Elbow flexion contracture, Knee flexion contracture, Ca... |
OMIM:608836 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Priapism |
OMIM:603903 |
| Gaucher Disease, Perinatal Lethal |
|
Ventriculomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis mu... |
OMIM:608013 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility |
OMIM:277180 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Hydrocephalus, Camptodactyly of finger |
OMIM:619951 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, H... |
OMIM:253220 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Camptodactyly, Hydrocephalus, Flexion contracture, Atrial septal defect |
OMIM:207410 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Dilated third ventricle, Hypogonadism, Hydrocephalus, Flexion contracture |
ORPHA:500055 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Adams-Oliver Syndrome |
|
Tetralogy of Fallot, Hydrocephalus, Abnormal pulmonary valve morphology, Encephalocele |
ORPHA:974 |
| Joubert Syndrome |
|
Hydrocephalus, Situs inversus totalis, Encephalocele |
ORPHA:475 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Omphalocele, Ventricular septal defect |
OMIM:617022 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia |
ORPHA:1517 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Encephalocele, Dextrocardia |
ORPHA:220493 |
| Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Mitral valve prolapse, Umbilical hernia |
OMIM:104350 |
| Iniencephaly |
|
Spinal dysraphism, Myelomeningocele, Encephalocele, Congenital diaphragmatic hernia, Anencephaly,... |
ORPHA:63259 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Transposition of... |
ORPHA:1780 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Flexion contracture, Hydrocephalus |
OMIM:615249 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Ventriculomegaly, Occipital meningocele, Congenital diaphragmatic hernia, Hydrocephalus, Atrial s... |
OMIM:616546 |
| Mucopolysaccharidosis Type 3 |
|
Ventriculomegaly, Umbilical hernia, Inguinal hernia, Abnormal mitral valve morphology, Abnormal a... |
ORPHA:581 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormal heart morphology, Hydrocephalus |
OMIM:239300 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Hydrocephalus, Splenomegaly |
ORPHA:585 |
| Peho Syndrome |
|
Ventriculomegaly, Flexion contracture, Arthrogryposis multiplex congenita, Hydrocephalus |
ORPHA:2836 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2169 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Patent foramen ovale,... |
ORPHA:505248 |
| Short-Rib Thoracic Dysplasia 12 |
|
Splenomegaly, Inguinal hernia, Ventricular septal defect, Patent foramen ovale, Hydrocephalus, Om... |
OMIM:269860 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Hydrocephalus |
OMIM:259710 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Axial Mesodermal Dysplasia Spectrum |
|
