AP1B1 deficiency

Synonym(s)
- Keratitis-ichthyosis-deafness syndrome
Type

Disease
External link(s)
- IEMbase
Gene
- AP1B1 / AP-1 complex subunit beta 1
  22q12.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- AP-1 complex subunit beta 1
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes