Genomics England
GMS Panels
Panels
Genes and Entities

KIAA0391

KIAA0391
OMIM: 609947
PanelMode of inheritanceDetails
1 panel
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hearing loss, intellectual disability