NAGLU

N-acetyl-alpha-glucosaminidase
OMIM: 609701
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 3B 252920
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920, MUCOPOLYSACCHARIDOSIS TYPE 3B (MPS3B)
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
Mucopolysaccharidosis Type III, Mucopolysaccharidosis, Type III, Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920, MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses), MUCOPOLYSACCHARIDOSIS TYPE 3B, Mucopolysaccharidosis Type IIIB
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920, Sanfilippo syndrome type B MONDO:0009656
R-numbers: R292
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920