Genomics England
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Panels
Genes and Entities

SOX4

SRY-box 4
OMIM: 184430
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
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, imprinted status unknown
Phenotypes
Coffin-Siris syndrome 10, 618506, Syndromic intellectual disability, Global developmental delay, Intellectual disability, Growth delay, Clinodactyly of the 5th finger, facial dysmorphism