AP1S2 deficiency

Synonym(s)
- Pettigrew syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AP1S2 / AP-1 complex subunit sigma 2
  Xp22.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- AP-1 complex subunit sigma-2
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes
Child entries
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome