PHACTR1

phosphatase and actin regulator 1
OMIM: 608723
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Global developmental delay, Intellectual disability, Seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Global developmental delay, Intellectual disability, Seizures:Epileptic encephalopathy, early infantile, 70 618298, PHACTR1-associated neurodevelopment disorder