NAGA

alpha-N-acetylgalactosaminidase
OMIM: 104170
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHINDLER DISEASE 609241, KANZAKI DISEASE 609242
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHINDLER DISEASE, KANZAKI DISEASE
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schindler disease, type I, 609241, seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kanzaki disease
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241, KANZAKI DISEASE (KANZD)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schindler disease, type I 609241, Schindler disease, type III 609241