ALKBH8

alkB homolog 8, tRNA methyltransferase
OMIM: 613306
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Seizures, Intellectual disability