PHIP

pleckstrin homology domain interacting protein
OMIM: 612870
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental delay, ID, obesity and dysmorphic features
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental delay, ID, obesity and dysmorphic features
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, NOT imprinted
Phenotypes
INTELLECTUAL DISABILITY, Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991
R-numbers: R149
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Obesity, global developmental delay, intellectual disability, behavioral abnormality, dysmorphic facies