Sterol-C4-methyl oxidase deficiency

Synonym(s)
- Microcephaly, congenital cataract, and psoriasiform dermatitis
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MSMO1 / methylsterol monooxygenase 1
  4q32.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylsterol monooxygenase 1
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis