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Perrault syndrome

4 OMIM references -
4 associated genes
20 signs/symptoms

COMMON GENES: 1

Bifunctional enzyme deficiency

1 OMIM reference -
2 associated genes
No signs/symptoms info

Perrault syndrome

Bifunctional enzyme deficiency

CLPP	(UniProt - OMIM)		EHHADH	(UniProt - OMIM)
HARS2	(UniProt - OMIM)		HSD17B4	(UniProt - OMIM)
HSD17B4	(UniProt - OMIM)
LARS2	(UniProt - OMIM)


COMMON GENES	HSD17B4

Citations in the biomedical literature:

Perrault syndrome		Bifunctional enzyme deficiency
	Synonym(s): - XX gonodal dysgenesis - deafness		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare otorhinolaryngologic disease - Rare urogenital disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

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

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536663

Perrault syndrome
	Very frequent - Abnormal / polycystic ovaries - Autosomal recessive inheritance - Late puberty / hypogonadism / hypogenitalism - Primary amenorrhea - Sensorineural deafness / hearing loss - Uterine / uterus / Fallopian tubes anomalies Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Short stature / dwarfism / nanism Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Nerve conduction abnormality - Nystagmus - Oculomotor apraxia / dyspraxia - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Peripheral neuropathy - Precocious menopause / secondary amenorrhea - Ptosis - Scoliosis
Bifunctional enzyme deficiency
(no data available)