MAGMAS deficiency

Synonym(s)
- Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PAM16 / Mitochondrial Import Inner Membrane Translocase Subunit PAM16
  16p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial import inner membrane translocase subunit PAM16
Disease group(s)
- 11.2 Disorders of mitochondrial protein import