ODCs

Click node...

3 OMIM references -
3 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

46,XX testicular disorder of sex development

Aniridia - cerebellar ataxia - intellectual deficit


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX3	(0.52)	PAX6

Citations in the biomedical literature:

46,XX testicular disorder of sex development		Aniridia - cerebellar ataxia - intellectual deficit
	Synonym(s): - 46,XX testicular DSD - De la Chapelle syndrome - XX, male syndrome		Synonym(s): - Gillespie syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

	External references: 3 OMIM references - 1 MeSH reference: D058531		External references: 1 OMIM reference - No MeSH references

46,XX testicular disorder of sex development		Aniridia - cerebellar ataxia - intellectual deficit
	Very frequent - Abnormal / polycystic ovaries - Ambiguous genitalia - Late puberty / hypogonadism / hypogenitalism - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - X-linked recessive inheritance		Very frequent - Aniridia / iris hypoplasia - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Expressionless face / amimia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Hypotonia - Movement disorder - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Anomalies of ear and hearing - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches