ABHD12 deficiency

Synonym(s)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ABHD12 / abhydrolase domain containing 12
  20p11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Monoacylglycerol lipase ABHD12
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism