| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| 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 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| 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 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Holoprosencephaly |
OMIM:300706 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
ORPHA:250994 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Biemond Syndrome Ii |
|
Abnormality of the endocrine system, Hydrocephalus |
OMIM:210350 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad... |
ORPHA:649929 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp... |
ORPHA:2183 |
| Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Long penis |
ORPHA:1672 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... |
ORPHA:8 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Ventriculomegaly |
OMIM:218350 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly |
OMIM:618577 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ventricle dilatati... |
OMIM:602200 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... |
ORPHA:254516 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Renal hypoplasia, Vesicoureteral reflux, Decreased testicular size |
ORPHA:85284 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... |
OMIM:609757 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus |
ORPHA:1237 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Bile duct proliferation, Da... |
OMIM:607361 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:615862 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis |
ORPHA:171839 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:175700 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Diabetic Embryopathy |
|
Ureteral duplication, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morp... |
ORPHA:1926 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Hydrocephalus, Decrease... |
OMIM:616222 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Dand... |
OMIM:611134 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF lysine concentr... |
OMIM:616034 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocepha... |
ORPHA:2075 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2701 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
| Triploidy |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... |
ORPHA:3376 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus |
ORPHA:31 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia |
OMIM:276950 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
| Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:377 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Micropenis, Anterior hypopituitarism, Hydrocephalus |
OMIM:241800 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydrocephalus, Congenital megaureter... |
ORPHA:261344 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hydroceph... |
OMIM:220210 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... |
OMIM:222300 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anenceph... |
OMIM:612284 |
| Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology |
ORPHA:2189 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:601499 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hydrocephalus |
OMIM:269920 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, A... |
OMIM:617053 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of th... |
ORPHA:722 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Chronic kidney disease, Ventriculomegaly, Nephronophthisis |
OMIM:615630 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Vesicoureteral re... |
OMIM:619951 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation |
OMIM:613001 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Emanuel Syndrome |
|
Ventriculomegaly, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Mic... |
OMIM:609029 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaureter, Hypoplas... |
ORPHA:2437 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
| Hogue-Janssen Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus, Unilateral renal agenesis |
OMIM:616362 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Hydrocephalus, Horseshoe kidney, Hydrocele testis, Polycystic kidney... |
ORPHA:314588 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Bicornuate ut... |
OMIM:264480 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Nephrolithiasis, Nephritis, Dandy-Walker malformation |
OMIM:217090 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly |
OMIM:614969 |
| Emanuel Syndrome |
|
Ventriculomegaly, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Hyp... |
ORPHA:96170 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Hypothyroidism, Ventric... |
ORPHA:1812 |
| Oeis Complex |
|
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... |
OMIM:258040 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydrocephalus, Vaginal atresia |
ORPHA:3301 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, ... |
OMIM:612651 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Decreased testicular size, Multicystic kidney dysplasia, Occipital e... |
OMIM:615287 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly |
OMIM:300514 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydro... |
OMIM:257300 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi... |
ORPHA:261290 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
ORPHA:899 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal morphology of female internal geni... |
ORPHA:1834 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Spina bifida, Bifid uterus, Epispadias,... |
ORPHA:322 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| H Syndrome |
|
Diabetes mellitus, Hydrocephalus, Azoospermia, Hypogonadism, Delayed puberty, Micropenis, Decreas... |
ORPHA:168569 |
| 3C Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Adrenal hypoplasia, Hydrocephalus, Hydronephr... |
ORPHA:7 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalu... |
ORPHA:2166 |
| B4Galt1-Cdg |
|
Hydrocephalus, Hypothyroidism, Dandy-Walker malformation |
ORPHA:79332 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormality of the male genitalia, Cholelithiasis, Renal tubular dysfunction, Hydrocephalus |
OMIM:614886 |
| Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypospadias |
ORPHA:2409 |
| 1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydrocephalus, Ventriculomegaly, Horseshoe kidney |
ORPHA:238769 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Hydrocephalus, Micropenis, Dandy-Walker malformation |
OMIM:617822 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulatin... |
OMIM:101800 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Proximal tubulopathy, Ventriculomegaly, Unilateral renal agenesis |
OMIM:614576 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
| Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreat... |
ORPHA:564 |
| Gracile Bone Dysplasia |
|
Micropenis, Hydrocephalus |
OMIM:602361 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Hydrocephalus, Abnormality of the parathyroid gl... |
ORPHA:2969 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Spina bifida, Hydrocephalus, Ambiguous genitalia, Hydronephrosis |
ORPHA:2839 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Renal cyst, Dandy-Walker malformation |
OMIM:614424 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus, Polycystic kidney dysplasia |
OMIM:617866 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Pelvic kidney |
OMIM:617244 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydrocephalus, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe |
ORPHA:1555 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ... |
OMIM:608091 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus |
ORPHA:1865 |
| Fg Syndrome Type 1 |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Small pituitary gland, Ventriculomegaly |
ORPHA:93932 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Abnormality of the uterus, Ventriculomegaly |
ORPHA:59315 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology |
ORPHA:3412 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation |
OMIM:231670 |
| Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus-p... |
ORPHA:2318 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly |
ORPHA:244 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus-p... |
ORPHA:220497 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Unilateral renal agenesis, Aqu... |
OMIM:620305 |
| Tenorio Syndrome |
|
Enuresis, Hydrocephalus, Hypoinsulinemia, Ventriculomegaly |
OMIM:616260 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
| Lateral Meningocele Syndrome |
|
Cryptorchidism, Neurogenic bladder, Meningocele, Hydrocephalus |
OMIM:130720 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Absent nipple, Hydronephrosis, Ureteral triplication |
OMIM:104350 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Hydrocephalus, Enuresis, Dandy-Walker malformation |
ORPHA:459061 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus, Hypospadias |
OMIM:313850 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Dextrocardia |
|
Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypoplasia, Abnormality of the... |
ORPHA:1666 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Hydrocephalus, Hydronephrosis |
ORPHA:250989 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Micropenis, Ventr... |
OMIM:616546 |
| Fraser Syndrome 3 |
|
Ureteral agenesis, Hypoplasia of penis, Small scrotum, Hydrocephalus |
OMIM:617667 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... |
ORPHA:54595 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Unilateral renal agenesis |
ORPHA:1064 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Hydrocephalus, Red-brown urine, Renal tubular epithel... |
ORPHA:228308 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Hydrocephalus, Annular pancreas, ... |
OMIM:227646 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo... |
ORPHA:268810 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
| Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl... |
OMIM:147791 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... |
OMIM:309801 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H... |
OMIM:236670 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora |
OMIM:207410 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Uterine leiomyoma, Irregular menstruation, Urinary incontinence |
OMIM:616482 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven... |
OMIM:123790 |
| Crouzon Syndrome |
|
Hydrocephalus, Dysgerminoma |
OMIM:123500 |
| Monosomy 18Q |
|
Bilateral cryptorchidism, Hydrocephalus, Micropenis, Hypothyroidism, Secondary growth hormone def... |
ORPHA:1600 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Spina bifida occulta, Myelomeningocele, Hydrocephalus |
OMIM:613686 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Precocious puberty, Cryptorchidism... |
ORPHA:2322 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... |
OMIM:249000 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Enuresis, Aplasia/Hypoplas... |
ORPHA:96121 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Abnormality of the endocri... |
ORPHA:2356 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Unilateral renal agenesis, Ov... |
OMIM:618188 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis |
ORPHA:475 |
| Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Spina bifida, Abnormal preputium morphology, Crypt... |
ORPHA:84 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Renal hypoplasia, Hypoplasia of the ovary, Micropenis, Decreased testicular size |
OMIM:619321 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Nephro... |
ORPHA:1454 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Hypoplastic nipples, Ambiguous g... |
OMIM:269860 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Hydrocephalus, Micropenis, Hydronephrosis |
ORPHA:163979 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Whipple Disease |
|
Hydrocephalus, Hypothyroidism, Erectile dysfunction |
ORPHA:3452 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Communicating hydrocephalus |
OMIM:244400 |
| Desmosterolosis |
|
Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Ventriculomegaly |
OMIM:602398 |
| Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Cryptorchidism, Hydrocephalus... |
ORPHA:2162 |
| Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Vaginal atresia, Hydronephrosis, Ventriculomegaly |
OMIM:101200 |
| Cousin Syndrome |
|
Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydranencephaly, Hydroneph... |
OMIM:260660 |
| Desmosterolosis |
|
Ambiguous genitalia, Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis |
ORPHA:220493 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met... |
OMIM:277400 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of female external ge... |
ORPHA:235 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Hydronephrosis |
ORPHA:1340 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Ureteral obstruction, Myelomeningocele, Hydrocephalus, Hydronephrosis |
ORPHA:90652 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the gall... |
ORPHA:264450 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Mucopolysacchariduria |
ORPHA:585 |
| Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly, Ovarian neoplasm |
ORPHA:87 |
| Mucopolysaccharidosis, Type Ii |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ... |
OMIM:309900 |
| Coccidioidomycosis |
|
Renal insufficiency, Abnormal sperm morphology, Abnormality of the endocrine system, CSF pleocyto... |
ORPHA:228123 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Ventricul... |
ORPHA:457284 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Mend Syndrome |
|
Cryptorchidism, Crossed fused renal ectopia, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Aplasia of the uterus, Micropenis |
OMIM:614083 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Ureteropelvic junction obstruction, Small scrotum, Hypospadias, Septate vagina, Un... |
OMIM:270400 |
| Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:305450 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... |
ORPHA:2495 |
| Aymé-Gripp Syndrome |
|
Proteinuria, Cryptorchidism, Hydrocephalus, Breast hypoplasia, Ventriculomegaly |
ORPHA:1272 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Hydrocephalus, Horseshoe kidney, Hydronephrosis, Dandy-Walker malformation |
ORPHA:314585 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... |
ORPHA:2658 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Rectovaginal fistula, Hydronephrosis |
ORPHA:1780 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Subependymal nodules, Ven... |
ORPHA:25 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:182212 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven... |
OMIM:605627 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Alexander Disease |
|
Diabetes mellitus, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Hypothyroidism |
ORPHA:58 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Renal cyst, Polycystic kidney dysplasia |
OMIM:102500 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Homocystinuria, Ventriculomegaly |
ORPHA:395 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
| Tetrasomy 5P |
|
Hydrocephalus |
ORPHA:3309 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Urethral atresia, Adr... |
OMIM:273395 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi... |
ORPHA:363958 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
| Hurler Syndrome |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ... |
OMIM:607014 |
| Mucopolysaccharidosis, Type Vii |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ... |
OMIM:253220 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Hydrocephalus, Decreased response to growth hormone stimulation test |
OMIM:616007 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Epispadias, Hy... |
ORPHA:2461 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus |
OMIM:619512 |
| Stromme Syndrome |
|
Hydrocephalus, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus |
OMIM:620351 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Renal artery stenosis, Parath... |
OMIM:162200 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Me... |
ORPHA:567 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Hydronephrosis |
OMIM:115150 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria, Communicating hydrocephalus |
OMIM:616084 |
| Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Renal hypoplasia, Ab... |
OMIM:219000 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas, Hydrocephalus |
OMIM:618162 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly |
ORPHA:2462 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Nephrotic syndrome, Heavy protein... |
ORPHA:505248 |
| Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:602535 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hydrocephalus, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Abn... |
ORPHA:538 |
| Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter |
ORPHA:1571 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Ovarian fibroma, Ventriculomegaly |
ORPHA:77301 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab... |
ORPHA:2556 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Polycystic kidney d... |
OMIM:311200 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida |
OMIM:109400 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... |
OMIM:107480 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Unilateral renal agenesis |
ORPHA:261337 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ectopic kidney |
ORPHA:268249 |
| Raine Syndrome |
|
Hydrocephalus, Hydroureter, Hydronephrosis |
OMIM:259775 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Horseshoe kidney |
ORPHA:1106 |
| Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus, Horseshoe kidney |
ORPHA:221120 |
| Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Thymic hormone decrease... |
OMIM:216400 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:259720 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Mucopolysacchariduria |
ORPHA:579 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Premature thelarche, Cryptorchid... |
OMIM:147920 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Pancreatic endocrine tumor, Pituitary adenoma, Chronic kidney disease, Parat... |
ORPHA:805 |
| Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Oligozoospermia, Multiple re... |
ORPHA:3310 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism |
ORPHA:3042 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Unilateral renal agenesis |
OMIM:154400 |
| Hurler Syndrome |
|
Hydrocephalus, Mucopolysacchariduria |
ORPHA:93473 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrocephalus, Methylmalonic aciduria |
ORPHA:79282 |
| Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Hydrocephalus, Mucopolysacchariduria, Urinary glycosaminoglyc... |
ORPHA:581 |
| Cryptococcosis |
|
Hydrocephalus, Prostatitis |
ORPHA:1546 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Spina bifida occulta, Hydrocephalus |
OMIM:300373 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydrocephalus, C... |
ORPHA:709 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Spin... |
OMIM:305600 |
| Hajdu-Cheney Syndrome |
|
Multiple renal cysts, Hypospadias, Hydrocephalus, Delayed puberty |
ORPHA:955 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Hydrocephalus, Renal hypoplasia, Renal cyst, Lateral ventricle dilatation, Colpoc... |
OMIM:210710 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine |
OMIM:253200 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Hypospadias, Hydrocephalus, Hematuria, Delayed puberty, Micropenis, Decreased CSF ... |
OMIM:619475 |
| Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal, Hydronephrosis |
OMIM:114290 |
| Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Hydrocephalus, Pheochrom... |
ORPHA:636 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Azoospermia, Delayed puberty, Cholelithiasis, Ventriculomegaly |
ORPHA:2072 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus |
ORPHA:536467 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Absent nipple, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Hypoplasti... |
OMIM:612289 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:137667 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Normal pressure hydrocephalus, Micropenis |
OMIM:133540 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
| Yunis-Varon Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Renovascular hypertension, Hypoplastic labia majora, ... |
ORPHA:3472 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Enlarged kidney |
OMIM:261740 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Ventriculo... |
OMIM:194190 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Crossed fused renal ectopia, Hypospadias, Anterior pituitary hypopla... |
OMIM:619841 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism... |
OMIM:261540 |
| Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus |
OMIM:208150 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Ectopic kidney, Cryptorchidism, Hydrocephalus, Congenit... |
OMIM:607872 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Micropenis, Ventriculomegaly |
ORPHA:457359 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Anencephaly, Adrenal gland dysgenesis, Severe hydrocephalus, Abnormal ... |
OMIM:236680 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Hypoplasia of the thymus, Increased serum... |
OMIM:264090 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
| Gaucher Disease |
|
Proteinuria, Hydrocephalus, Hematuria, Delayed puberty, Ventriculomegaly |
ORPHA:355 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
| Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
| Osteogenesis Imperfecta |
|
Hydrocephalus, Noncommunicating hydrocephalus, Hypercalciuria, Nephrolithiasis, Ventriculomegaly |
ORPHA:666 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Oligosacchariduria |
ORPHA:309282 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc... |
OMIM:268300 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Hydronephrosis |
OMIM:304120 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Coffin-Siris Syndrome 12 |
|
Hypospadias, Cryptorchidism, Noncommunicating hydrocephalus, Horseshoe kidney, Hypothyroidism |
OMIM:619325 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Renal cyst, Duplication of rena... |
OMIM:312870 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
| Costello Syndrome |
|
Renal insufficiency, Hydrocephalus, Ventriculomegaly |
OMIM:218040 |
| Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Rectovaginal fistula, Perineal fistula |
OMIM:218600 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalu... |
OMIM:619534 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus |
ORPHA:667 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Hydronephrosis |
ORPHA:363700 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus |
ORPHA:580 |
| Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Ectopic kidney, Hydrocephalus, Vesicourete... |
OMIM:164210 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
