PIDD1

p53-induced death domain protein 1
OMIM: 605247
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 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Autism, Behavioral abnormality, Psychosis, Pachygyria, Lissencephaly, Abnormality of the corpus callosum