SGSH

N-sulfoglucosamine sulfohydrolase
OMIM: 605270
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
MUCOPOLYSACCHARIDOSIS TYPE 3A 252900
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900, 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
Mucopolysaccharidosis Type III, Mucopolysaccharidosis, Type III, Mucopolysaccharidosis Type IIIA, MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses), MUCOPOLYSACCHARIDOSIS TYPE 3A
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
MUCOPOLYSACCHARIDOSIS TYPE 3A (MPS3A)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900