WIPI2

WD repeat domain, phosphoinositide interacting 2
OMIM: 609225
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453