ALG13

ALG13, UDP-N-acetylglucosaminyltransferase subunit
OMIM: 300776
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type Is, Infantile spasms and LGS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
EPILEPTIC ENCEPHALOPATHIES.