Peroxin 6 deficiency

Synonym(s)
- Peroxisome biogenesis disorder-5
Type

Disease
External link(s)
- IEMbase
Gene
- PEX6 / Peroxisomal AAA+ ATPase
  6p21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Peroxin-6
Disease group(s)
- 19.3 Peroxisomal biogenesis disorders
Child entries
- PEX6-related spinocerebellar ataxia-blindness-deafness syndrome