OXR1

oxidation resistance 1
OMIM: 605609
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000
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
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000