WASF1

WAS protein family member 1
OMIM: 605035
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with absent language and variable seizures, 618707
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with absent language and variable seizures, 618707, ID associated with autistic features, seizures, and developmental delay, intellectual disability