ODCs

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1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

X-linked intellectual deficit, Golabi-Ito-Hall type

Partial androgen insensitivity syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PQBP1	(0.49)	AR

Citations in the biomedical literature:

X-linked intellectual deficit, Golabi-Ito-Hall type		Partial androgen insensitivity syndrome
	Synonym(s): (no synonyms)		Synonym(s): - PAIS - Partial androgen resistance syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - 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 gynecologic or obstetric disease - Rare infertility - Rare urogenital disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: x-linked recessive

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

X-linked intellectual deficit, Golabi-Ito-Hall type		Partial androgen insensitivity syndrome
	Very frequent - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Long face - Microcephaly - Narrow face - Short stature / dwarfism / nanism - Triangular face - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Brittle hair / distrix / trichorrhexis - Epicanthic folds - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness Occasional - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Bifid scrotum - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies Frequent - Female pseudohermaphrodism / virilisation / clitoridomegaly - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) Occasional - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets