XDH

xanthine dehydrogenase
OMIM: 607633
PanelMode of inheritanceDetails
3 panels
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xanthinuria type II (Disorders of purine metabolism), Xanthinuria type I (Disorders of purine metabolism)
R-numbers: R256
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xanthinuria, type I, 278300
R-numbers: R257
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xanthinuria, type I, 278300