ataxia-hypogonadism-choroidal dystrophy syndrome
MeSH: C565850ORPHA: 1180
Overview
autosomal recessive disease characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with ataxia-hypogonadism-choroidal dystrophy syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismChorioretinal dystrophyAtaxia
Classification & Codes
MeSH Code
C565850Orphanet Code
ORPHA:1180ataxia-hypogonadism-choroidal dystrophy syndrome
| MeSH | C565850 |
| Orphanet | ORPHA:1180 |
| Treatments | 0 drug(s) |
| Symptoms on record | 3 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO