Genomics England
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Genes and Entities

POU3F2

POU class 3 homeobox 2
OMIM: 600494
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
neurodevelopmental delay with hyperphagic obesity