children | - 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 57514000
- 46,XX disorder of sex development with skeletal anomalies syndrome 733621007
- 46,XX ovarian dysgenesis, short stature syndrome 1237345002
- 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 1231281009
- 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency 783092005
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome 783091003
- 46,XY partial gonadal dysgenesis 725045004
- 4H leukodystrophy 1208933000
- Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome 720981000
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Androgen resistance syndrome 12313004
- Boucher Neuhäuser syndrome 715984007
- Chondrodysplasia with disorder of sex development syndrome 720851007
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 776204008
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome 1172594000
- Congenital leptin deficiency 700150001
- Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006
- Deafness and hypogonadism syndrome 718714006
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome 719451006
- Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone 782917007
- Familial male-limited precocious puberty 725295005
- Familial penile hypospadias 716744000
- Female infertility due to oocyte meiotic arrest 1172637002
- Female infertility due to zona pellucida defect 770726004
- Frontonasal dysplasia with alopecia and genital anomaly syndrome 725029001
- Genitopalatocardiac syndrome 773749003
- Haspeslagh Fryns Muelenaere syndrome 716090004
- Hereditary breast and ovarian cancer syndrome 718220008
- Hydrocephalus with obesity and hypogonadism syndrome 721231007
- Hyperandrogenism due to cortisone reductase deficiency 783696009
- Hypergonadotropic hypogonadism with cataract syndrome 721233005
- Hypogonadism with prune belly syndrome 236796004
- Hypogonadotropic hypogonadism retinitis pigmentosa syndrome 733113002
- Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome 721842008
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Kallman syndrome with heart disease 722027009
- Leydig cell agenesis 56212008
- Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome 721977007
- MacDermot Winter syndrome 716023007
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- McKusick Kaufman syndrome 702407009
- Microcephalic primordial dwarfism, insulin resistance syndrome 1220596009
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome 733092009
- MIRAGE syndrome 1234831009
- MORM syndrome 715628009
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome 724097003
- Obesity due to leptin receptor gene deficiency 785722006
- Opitz-Frias syndrome 81771002
- Ovarioleukodystrophy 1156768008
- Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome 722202006
- Polyendocrine polyneuropathy syndrome 1260449002
- Primary hypergonadotropic hypogonadism and partial alopecia syndrome 719275009
- Progressive cerebellar ataxia with hypogonadism 230240004
- RAB18 deficiency 772225005
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005
- Robinow syndrome 76520005
- SCARF syndrome 734173003
- Scholte syndrome 722002002
- Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome 722114007
- Sensorineural deafness and male infertility 700489002
- SERKAL syndrome 723720008
- Spastic paraplegia with precocious puberty syndrome 732958004
- Splenogonadal fusion, limb defect, micrognathia syndrome 726724005
- Syndromic X-linked intellectual disability type 7 719160009
- Testicular tumor of adrenogenital syndrome 109864001 removed: 2006-07-31
- Urban Rogers Meyer syndrome 716334004
- WNT4 Mullerian aplasia and ovarian dysfunction 699275001
- Woodhouse Sakati syndrome 816067005
- X-linked central congenital hypothyroidism with late-onset testicular enlargement 771510006
- X-linked intellectual disability Cilliers type 719013004
- X-linked intellectual disability Van Esch type 718914002
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome 765471005
- X-linked lissencephaly with abnormal genitalia syndrome 717632002
- XY type gonadal dysgenesis with associated anomalies syndrome 733605002
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