GPHN

PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency C, 615501
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency C 615501, Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism), epileptic encephalopathy