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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHINDLER DISEASE 609241, KANZAKI DISEASE 609242
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHINDLER DISEASE, KANZAKI DISEASE
R-numbers: R59
Signed-off version 3.1
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 3.2
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 4.4
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 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schindler disease, type I OMIM:609241, Schindler disease, type III OMIM:609241, alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221, Kanzaki disease OMIM:609242, alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222