Phospholipase A2 group 6 deficiency

Synonym(s)
- Infantile neuroaxonal dystrophy,
- Seitelberger disease,
- neurodegeneration with brain iron accumulation type 2B
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PLA2G6 / Phospholipase A2 Group VI
  22q13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Calcium-independent phospholipase A2
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
Child entries
- PLA2G6-related adult-onset dystonia-parkinsonism