PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412, Developmental and epileptic encephalopathy 71, OMIM:618328, ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339