PIDD1

p53-induced death domain protein 1
OMIM: 605247
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PIDD1-related neurodevelopmental disorder
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Autism, Behavioral abnormality, Psychosis, Pachygyria, Lissencephaly, Abnormality of the corpus callosum
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Autism, Behavioral abnormality, Psychosis, Pachygyria, Lissencephaly, Abnormality of the corpus callosum
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Pachygyria, Lissencephaly, Seizures