MED23

mediator complex subunit 23
OMIM: 605042
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 18, 614249, MRT18, Intellectual disability