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Perrault syndrome
4 OMIM references -
4 associated genes
21 connected diseases
20 signs/symptoms
Disease Type of connection
Bifunctional enzyme deficiency
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Charcot-Marie-Tooth disease type 4D
Burkitt lymphoma
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Precursor T-cell acute lymphoblastic leukemia
Short stature due to growth hormone qualitative anomaly
Wolf-Hirschhorn syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Acatalasemia
Leukoencephalopathy - dystonia - motor neuropathy
Parkinsonian-pyramidal syndrome
Primary hyperoxaluria type 2
Young adult-onset Parkinsonism
Synonym(s):
- XX gonodal dysgenesis - deafness
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 (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
CLPP Q16740601119
HARS2 P49590600783
HSD17B4 P51659601860
LARS2 Q15031604544
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