Cytochrome c oxidase subunit 7B deficiency

Synonym(s)
- Linear skin defects with multiple congenital anomalies type 2
Type

Disease
External link(s)
- IEMbase
Gene
- COX7B / Cytochrome C Oxidase Subunit 7B
  Xq21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cytochrome c oxidase subunit 7B, mitochondrial
Multimer
- Respiratory chain complex 4
Disease group(s)
- 7.4.1 Disorders of nuclear encoded complex IV subunits