ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
5 signs/symptoms

Blepharophimosis-intellectual deficit syndrome, MKB type

46,XX testicular disorder of sex development


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MED12	(0.79)	SOX9

Citations in the biomedical literature:

Blepharophimosis-intellectual deficit syndrome, MKB type		46,XX testicular disorder of sex development
	Synonym(s): - BMRS, MKB type - BMRS, Maat-Kievit-Brunner type - Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type		Synonym(s): - 46,XX testicular DSD - De la Chapelle syndrome - XX, male syndrome

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

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

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

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

46,XX testicular disorder of sex development
	Very frequent - Abnormal / polycystic ovaries - Ambiguous genitalia - Late puberty / hypogonadism / hypogenitalism - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - X-linked recessive inheritance
Blepharophimosis-intellectual deficit syndrome, MKB type
(no data available)