ATP6AP2

ATPase H+ transporting accessory protein 2
OMIM: 300556
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic, Hedera type, 300423, MENTAL RETARDATION X-LINKED WITH EPILEPSY, X-linked intellectual disability, Hedera type