KIAA1161

myogenesis regulating glycosidase (putative)
PanelMode of inheritanceDetails
3 panels
R-numbers: R56
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
R-numbers: R58
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317