ATP8A2

ATPase phospholipid transporting 8A2
OMIM: 605870
PanelMode of inheritanceDetails
2 panels
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268, intellectual disability