| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| 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 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| 1Q21.1 Microduplication Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Tetralogy of Fallot, Cryptorchidism |
ORPHA:250994 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Neural Tube Defects, Susceptibility To |
|
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:618948 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia |
ORPHA:261102 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus, Flexion contracture |
OMIM:300884 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus |
OMIM:258320 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Mitral valve prolapse |
ORPHA:2183 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Acalvaria |
|
Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Hydrocephalus, Ventriculomegaly, Cardiomegaly |
ORPHA:858 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:141333 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Vent... |
OMIM:610333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Camptodactyly of toe, ... |
OMIM:175700 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Hernia |
OMIM:602501 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Cardiomegaly |
OMIM:269920 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Ventriculome... |
ORPHA:272 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Hypertrophic cardiomyopathy, Ventri... |
OMIM:619051 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus, Flexion contracture |
OMIM:613155 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Male infertility |
OMIM:300991 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology |
OMIM:276950 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Hernia of the abdominal wall, Tetralogy of Fallot, Anomalous pulmona... |
ORPHA:2184 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... |
ORPHA:244 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Enamel hypoplasia, Ven... |
OMIM:253250 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus |
ORPHA:163596 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis |
ORPHA:2119 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Camptodactyly, Le... |
OMIM:300280 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal adipose tissue morphology, Ventriculomegaly |
ORPHA:2770 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hernia |
ORPHA:251046 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hydrocephalus |
ORPHA:1516 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:380 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Lipoma, Subvalvular aortic stenosis, At... |
OMIM:613001 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:218350 |
| Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:620197 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Triploidy |
|
Omphalocele, Hepatomegaly, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum mo... |
ORPHA:3376 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculomegaly |
ORPHA:93274 |
| 3C Syndrome |
|
Inguinal hernia, Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, H... |
ORPHA:7 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia |
OMIM:601499 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:619607 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Transpo... |
OMIM:313850 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Atrial septal defect, Ventric... |
OMIM:603387 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Pentalogy Of Cantrell |
|
Omphalocele, Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... |
ORPHA:1335 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Transposition of the... |
ORPHA:1926 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Umbilical hernia, Hypertrophic cardiomy... |
OMIM:612938 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
| Emanuel Syndrome |
|
Inguinal hernia, Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Congenital diap... |
OMIM:609029 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Emanuel Syndrome |
|
Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong... |
ORPHA:96170 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
| Beck-Fahrner Syndrome |
|
Extra-axial cerebrospinal fluid accumulation, Ventricular septal defect, Ventriculomegaly, Cardio... |
OMIM:618798 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Flexion contracture |
ORPHA:99947 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:2181 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Increased CSF protein concentration, Cardiomegaly |
OMIM:266500 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Scarring |
ORPHA:398189 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular ca... |
OMIM:264480 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventric... |
OMIM:239850 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Enlarg... |
ORPHA:91348 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Hydrocephalus, Cryptorchidism |
ORPHA:171839 |
| Tetrasomy 15Q26 |
|
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Camptodactyly |
OMIM:614846 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility |
OMIM:612444 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:2075 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Male infertility, Immotile sperm |
OMIM:614874 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Atrial septal defect, Ename... |
OMIM:614576 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... |
OMIM:615219 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1946 |
| Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Flexion contracture, Decreased testicular size |
OMIM:616222 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyopathy, Ventri... |
OMIM:616897 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:261344 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Infertil... |
ORPHA:465508 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Holoprosencephaly |
ORPHA:77298 |
| Temple Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:254516 |
| 47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
| Distal Triplication 15Q |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Hydrocele testis, Hernia, Camptoda... |
ORPHA:314588 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Hydrocephalus, Camptodactyly, Atrial septal defect, Aortic valve stenosis, Dandy... |
ORPHA:459061 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Atrioventricular canal defect, ... |
OMIM:314390 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
| Metatropic Dysplasia |
|
Hydrocephalus, Camptodactyly of finger |
ORPHA:2635 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Increased CSF lactate, Cardiomegaly |
ORPHA:391428 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Umbilical hernia, Tetralogy of Fa... |
OMIM:612582 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Reduced sperm motility, Male infertility, Immotile sperm |
OMIM:613807 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Lipoatrophy, Hydrocephalus, A... |
OMIM:616914 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, T... |
OMIM:253800 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| B4Galt1-Cdg |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cardiomegaly |
ORPHA:42 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly, Umbi... |
ORPHA:93400 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Decreased fertility in females, ... |
ORPHA:79239 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... |
OMIM:619895 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Joint contracture, Dandy-Walker malformation |
OMIM:225790 |
| Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
| Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Flexion contracture, Dandy-Walker malformation |
OMIM:310400 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, L... |
OMIM:612863 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Decreased CSF copper concentration, Increased CSF lactate, Ventriculomegaly, Cardiomegaly |
OMIM:620306 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Hydrocephalus, Atriov... |
ORPHA:2409 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:238769 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Flex... |
OMIM:309900 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Increased CSF protein concentration, Cardiomegaly |
OMIM:105210 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Ventricular septal defect, Hydrocephalus, Hypogonadism, Ventricul... |
OMIM:300514 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Con... |
ORPHA:2306 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:377 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Flexion contracture |
OMIM:613330 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture, Abnormal heart morphology |
ORPHA:1865 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex co... |
OMIM:617822 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Communicating hydrocephalus, Male infertility |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy-Walker ma... |
ORPHA:1647 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Splenomegaly, Hydrocephalus, Subcutaneous lipoma, Shagreen patch |
ORPHA:2969 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly |
ORPHA:349 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility |
OMIM:614935 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Distal arthrogryposis, Ventriculomegaly |
OMIM:619833 |
| Griscelli Syndrome |
|
Splenomegaly, Hepatomegaly, Encephalocele, Hydrocephalus |
ORPHA:381 |
| Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Hydrocephalus, Flexion contracture, Hepatosplenomega... |
OMIM:607014 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Hypergonadotropic hypogonadism,... |
OMIM:602782 |
| Trisomy 17P |
|
Aortic valve stenosis, Flexion contracture, Hypoplastic left heart, Hydrocephalus |
ORPHA:261290 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
| H Syndrome |
|
Lipodystrophy, Hydrocephalus, Hepatosplenomegaly, Azoospermia, Hypogonadism, Hernia, Camptodactyl... |
ORPHA:168569 |
| Lateral Meningocele Syndrome |
|
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus,... |
OMIM:130720 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Progressive flexion contractures, Cryptorchidism, Hydrocephalus, Mitral valve pr... |
ORPHA:93932 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Situs inversus totalis, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
OMIM:613686 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Whipple Disease |
|
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Hydrocephalus, Erectile dysfunction |
ORPHA:3452 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Abnormal dental enamel morphology |
ORPHA:2180 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Congenital contracture, Hydrocephalus, Colpocephaly, Ventriculomegaly |
OMIM:620156 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Dilated third... |
OMIM:613154 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Camptodactyly of finger |
OMIM:619951 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Hydrocephalus |
OMIM:614886 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Dextrocardia |
|
Situs inversus totalis, Hydrocephalus, Dextrocardia, Abnormal heart morphology |
ORPHA:1666 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Ventri... |
ORPHA:228308 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocepha... |
OMIM:245600 |
| Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Abnormal aortic va... |
ORPHA:579 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ventriculomegaly |
OMIM:304340 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Dentinogenesis imperfecta |
OMIM:112240 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Colp... |
OMIM:309801 |
| Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Splenomegaly, Hydrocephal... |
ORPHA:93473 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ventriculomegaly, Cardiomegaly, Dilated cardiomyopathy, Elbow flexion contracture, ... |
OMIM:608836 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita,... |
OMIM:608013 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly |
ORPHA:2189 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism, Dilated third ventricle, Ventri... |
ORPHA:500055 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Ho... |
ORPHA:2166 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Flexion contracture, ... |
OMIM:253220 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Abnormal pulmonary valve morphology |
ORPHA:974 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus, Flexion contracture, Camptodactyly |
OMIM:207410 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Umbilic... |
OMIM:618143 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Hydrocephalus |
ORPHA:475 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Priapism, Cardiomegaly |
OMIM:603903 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:220493 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cryptorchidism, Hydrocep... |
ORPHA:1600 |
| Cantú Syndrome |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
| Iniencephaly |
|
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydr... |
ORPHA:63259 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Hydrocephalus, Mitral valve prolapse |
OMIM:104350 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... |
ORPHA:1780 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Flexion contracture |
OMIM:615249 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meni... |
OMIM:616546 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Minimal subcutaneous fat, ... |
OMIM:182212 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... |
ORPHA:79330 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Abnormal heart morphology |
OMIM:239300 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Hydrocephalu... |
OMIM:269860 |
| Peho Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture, Ventriculomegaly |
ORPHA:2836 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Hepatosplenomegaly |
OMIM:259710 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Hepatomegaly, Hydrocephalus |
OMIM:259700 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Hepatosplenomegaly, Hernia, Atrial... |
ORPHA:505248 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:1834 |
| Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Cryptorchidism, Hydrocephalus, Abnormal heart morph... |
OMIM:305450 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| 1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Inguinal hernia, Abnormal cardiac septum morphology, Hydrocephalus |
ORPHA:250989 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Hydrocephalus |
ORPHA:585 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Encephalocele, Abnormal heart valve morphology, Camptodactyly of finger, Myelomening... |
ORPHA:90652 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Dandy-W... |
OMIM:257300 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Hydrocephalus, Flexion contracture, Um... |
ORPHA:581 |
| Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Inguinal hernia, Hydrocephalus |
OMIM:612940 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Hydrocephalus |
ORPHA:2736 |
| Limb Body Wall Complex |
|
Ventral hernia, Encephalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Spina ... |
ORPHA:2369 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Joint contracture of the hand, Camptodactyly |
OMIM:224400 |
| Desmosterolosis |
|
Hydrocephalus, Total anomalous pulmonary venous return, Arthrogryposis multiplex congenita, Joint... |
OMIM:602398 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Dentinogenesis imperfecta |
OMIM:616294 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Sacral lipoma |
OMIM:600145 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus |
ORPHA:3412 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Tetralog... |
OMIM:620305 |
| Desmosterolosis |
|
Splenomegaly, Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Hydrocephalus, Elbow contracture, Knee flexion contracture |
OMIM:618162 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal ... |
ORPHA:1340 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi... |
OMIM:613776 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Mitral val... |
ORPHA:2462 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Hydrocephalus, Flexion contracture, Cardiomyopathy, ... |
OMIM:253200 |
| Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus,... |
ORPHA:264450 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida |
ORPHA:2839 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Holoprosencephaly |
|
Omphalocele, Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Conge... |
ORPHA:2162 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Inguinal hernia, Occipital encephalocele, Splenomegaly, Hydrocephalus |
ORPHA:1454 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Flexion contracture, Holoprosencephaly,... |
OMIM:147791 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Inguinal hernia, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchid... |
ORPHA:1272 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Loss of truncal subcutaneous adipose tissue, Cardiomegaly |
ORPHA:2463 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus, Cryptorchidism |
ORPHA:1555 |
| Tetrasomy 5P |
|
Pericallosal lipoma, Hydrocephalus |
ORPHA:3309 |
| Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Decreased fertility in males, Abnormal ... |
ORPHA:84 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Cardiomegaly, Chronic CSF lymphocytosis, Hepatosplenome... |
ORPHA:51 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Coccidioidomycosis |
|
Pericarditis, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Atypical scarring of ... |
ORPHA:228123 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Hernia |
OMIM:230000 |
| Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
| Mirage Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Decreased testicular size |
OMIM:617053 |
| 7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hydr... |
ORPHA:96121 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Endocrine-Cerebroosteodysplasia |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Enlarged kidney, Ventriculomegaly |
OMIM:612651 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:115150 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:268249 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Achilles tendon contracture, Normal pressure hydrocephalus, Congenital finger fl... |
OMIM:620351 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, ... |
OMIM:130650 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hydrocephalus, Cardiomyopathy |
ORPHA:157 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Irregular menstruation |
OMIM:616482 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Myelopathy, Camptodactyly, Umbilical h... |
OMIM:252500 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Congenital contracture, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Cardiomyopathy, Communicating hydrocephalus |
OMIM:616084 |
| Marshall-Smith Syndrome |
|
Omphalocele, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, ... |
OMIM:602535 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Ventriculomegaly |
OMIM:259720 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, C... |
OMIM:236670 |
| Bohring-Opitz Syndrome |
|
Ventriculomegaly, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
| Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs inversus totalis, Hydroce... |
ORPHA:2461 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:3301 |
| Ogden Syndrome |
|
Inguinal hernia, Ventriculomegaly, Bicuspid aortic valve, Left atrial enlargement, Ventricular se... |
OMIM:300855 |
| Monosomy 9Q22.3 |
|
Umbilical hernia, Hydrocephalus, Cardiac fibroma, Ventriculomegaly |
ORPHA:77301 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia |
ORPHA:2268 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation |
OMIM:619575 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Ventriculomegaly |
OMIM:618278 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Ventricular septal defect, Hydrocephalus, Spina bifida occulta, Camptodactyly, Atria... |
OMIM:300373 |
| Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, Dandy-Walker mal... |
ORPHA:401973 |
| Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Umbilical hernia |
ORPHA:96191 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Atrial septal defect, Arthrogryposis multiple... |
OMIM:619512 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Lipodystrophy, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Adipose tissue ... |
OMIM:256040 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Inguinal hernia, Umbilical hernia, Enlarged kidney, Ventriculomegaly |
OMIM:618188 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abno... |
ORPHA:580 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypogonadism, Cryptorchidism, Hydrocephalus, Irregular menstruation |
OMIM:101800 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| 22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal dental ... |
ORPHA:567 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Camptodactyly o... |
OMIM:249000 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:1571 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hydrocephalus, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Inguinal hernia, Mitral stenosis, Ventricular septal defect, Splenomegaly, Hydrocep... |
ORPHA:955 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Oligozoospermia, ... |
ORPHA:85450 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Oli... |
ORPHA:3310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Abnormal heart morphology |
ORPHA:137667 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
| Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Spina bifida, Cryptorchidism, Hydrocephalus, Cystocele, Abnormal he... |
ORPHA:322 |
| Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Abnormal heart morphology |
OMIM:227646 |
| Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
| Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morpholog... |
ORPHA:2322 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Spina bifida, Cryptorchidi... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Spina bifida, Cryptorchidi... |
ORPHA:363958 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Abnormal heart morphology |
OMIM:227650 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Hydrocephalus, Mitral valve prolapse, Atrophic scars, Dentinogenesis... |
ORPHA:536467 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Flexion contracture |
OMIM:616007 |
| Cousin Syndrome |
|
Hydrocephalus, Camptodactyly, Hydranencephaly, Joint contracture of the hand, Wrist flexion contr... |
OMIM:260660 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
| Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hip contracture, Splenomegaly, Cryptorchidism,... |
OMIM:216400 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
| 15Q Overgrowth Syndrome |
|
Dandy-Walker malformation, Contracture of the proximal interphalangeal joint of the 2nd finger, H... |
ORPHA:314585 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Hajdu-Cheney Syndrome |
|
Inguinal hernia, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Umbilical hernia |
OMIM:102500 |
| Meckel Syndrome |
|
Encephalocele, Situs inversus totalis, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holopros... |
ORPHA:564 |
| Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cryptorchidism, Hydrocephalus, Ventricular septal defect |
ORPHA:163979 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Abnormal dental enamel morphology |
ORPHA:2050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Hydrocephalus, Dilated cardio... |
ORPHA:2556 |
| Holoprosencephaly 7 |
|
Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly,... |
OMIM:610828 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Enlarged polycystic ovaries, Cryptorchidism, Hydrocephalus, Flexion contracture, Elbow flexion co... |
ORPHA:95699 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Aqueductal stenosis, Hydrocephalus, T... |
OMIM:154400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:79282 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Tricuspid valv... |
ORPHA:261337 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
| Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Myelomeningocele, Hydrocephalus, Abnormal heart morphology |
OMIM:311200 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Splenomegaly, Aortic valve calcification, Hydrocephalus, Hepatospleno... |
ORPHA:2072 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Cryptorchidism, Muscula... |
OMIM:210710 |
| Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Hydrocephalus, Patent foram... |
ORPHA:221120 |
| Mend Syndrome |
|
Cryptorchidism, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Camptodact... |
OMIM:609192 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Bicuspid aortic valve, Cryptorchidism,... |
OMIM:612289 |
| Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Flexion contracture, Left ventricular hypertrophy, Hypertrophic cardi... |
ORPHA:365 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Enamel hypoplasia, Hydrocephalus |
OMIM:259775 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus, Chylopericardium, Shagreen patch |
ORPHA:538 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Dubowitz Syndrome |
|
Cryptorchidism, Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Hydrocephalus, Colpocephal... |
OMIM:270400 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus... |
ORPHA:2658 |
| Craniopharyngioma |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:54595 |
| Costello Syndrome |
|
Ventricular septal defect, Achilles tendon contracture, Hydrocephalus, Mitral valve prolapse, Pul... |
OMIM:218040 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Hepatosplenomegaly |
ORPHA:168577 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Inguinal hernia, Abnormal dental enamel morphology, Hydrocephalu... |
ORPHA:666 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Abnormal pulmonary valve morphology |
ORPHA:667 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo... |
ORPHA:363700 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Cardiomegaly, Spleno... |
ORPHA:116 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:91350 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Inguinal hernia, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs in... |
OMIM:619534 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Cryptorchidism, Atypical scarrin... |
OMIM:133540 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, Cardiomyopathy, Atrial se... |
ORPHA:3472 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Campomelic Dysplasia |
|
Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Spin... |
OMIM:114290 |
| Peters Plus Syndrome |
|
Inguinal hernia, Cryptorchidism, Hydrocephalus, Bicuspid pulmonary valve, Abnormal cardiac septum... |
ORPHA:709 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Spleno... |
OMIM:312870 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Elbow contracture, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Conge... |
OMIM:208150 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Decreased CSF 5-methyltetrahydro... |
OMIM:619475 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Secundum atrial septal defect, Cryptorchidism, ... |
OMIM:264090 |
| Loeys-Dietz Syndrome 2 |
|
Inguinal hernia, Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve pro... |
OMIM:610168 |
| Fraser Syndrome 1 |
|
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal heart morphology |
OMIM:219000 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Camptodactyly of finger, Increased subcutaneous... |
ORPHA:3455 |
| Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Flexion contracture, Abnormal heart morphology |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Flexion contracture, Abnormal heart morphology |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Flexion contracture, Abnormal heart morphology |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Flexion contracture, Abnormal heart morphology |
ORPHA:93924 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Inguinal hernia, Overriding aorta, Bicuspid aortic valve, Ventri... |
ORPHA:904 |
| Cryptococcosis |
|
Hydrocephalus, Prostatitis |
ORPHA:1546 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, ... |
OMIM:619991 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism |
ORPHA:3042 |
| Meningioma |
|
Impotence, Hypogonadotropic hypogonadism, Hydrocephalus, Amenorrhea |
ORPHA:2495 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Umbilical hernia, Hepatosplenomegaly |
ORPHA:309282 |
| Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Flexion contracture, Decreased testicular size, Hypoplasia of the ovary |
OMIM:619321 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Holoprosencephaly 9 |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
| Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Camptodactyly of 2nd-5th fingers |
ORPHA:1106 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Cryptorchidism, Hyd... |
OMIM:305600 |
| Oeis Complex |
|
Omphalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus |
OMIM:258040 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Cor pulmonale, Hepatosplenomegaly |
OMIM:219700 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidism, Bilateral crypt... |
ORPHA:1772 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Aplasia of the right hemidiaphragm, Cryptorchidism, Mild fetal ventr... |
OMIM:619841 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Atrial septal defect, Ventriculomegaly |
OMIM:194190 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Lipoma |
ORPHA:573278 |
| Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect... |
OMIM:107480 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Seve... |
OMIM:236680 |
| Neurofibromatosis Type 1 |
|
Multiple lipomas, Hydrocephalus, Cryptorchidism |
ORPHA:636 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules, Cardiac rhabdomyoma, Shagreen patch |
ORPHA:805 |
| Kabuki Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Atrial se... |
OMIM:147920 |
| Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Spina bifida, Cryptorchidism, Hydrocephalus, Atrial septal defect... |
OMIM:304120 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
| Peters-Plus Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal defect... |
OMIM:261540 |
| Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Abnormal heart morphology |
OMIM:218600 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus, Congenital diaphragmatic hernia |
OMIM:273395 |
| Noonan Syndrome 1 |
|
Male infertility, Ventricular septal defect, Cryptorchidism, Hypogonadism, Pulmonic stenosis, Atr... |
OMIM:163950 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Hydrocephalus, Frontal ence... |
OMIM:268300 |
| Coffin-Siris Syndrome 12 |
|
Cryptorchidism, Tetralogy of Fallot, Patent foramen ovale, Noncommunicating hydrocephalus |
OMIM:619325 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:164210 |
