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Ataxia - hypogonadism - choroidal dystrophy
1 OMIM reference -
1 associated gene
3 connected diseases
3 signs/symptoms
Disease Type of connection
Autosomal recessive spastic paraplegia type 39
Cerebellar ataxia - hypogonadism
X-linked Emery-Dreifuss muscular dystrophy
Synonym(s):
- Boucher-Neuhäuser syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PNPLA6 Q8IY17603197
Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Late puberty / hypogonadism / hypogenitalism
- Retinitis pigmentosa / retinal pigmentary changes