Genomics England
GMS Panels
Panels
Genes and Entities
C12orf4
chromosome 12 open reading frame 4
OMIM:
616082
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Panel
Mode of inheritance
Details
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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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive intellectual disability