Peroxisomal targeting signal 2 receptor deficiency

Synonym(s)
- Rhizomelic chondrodysplasia punctata type 1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PEX7 / Peroxisomal Biogenesis Factor 7
  6q23.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Peroxin-7
Disease group(s)
- 14.5.3 Disorders of ether lipid metabolism
Child entries
- Refsum disease type 2