HYAL1

hyaluronoglucosaminidase 1
OMIM: 607071
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 9 601492
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
?Mucopolysaccharidosis type IX, 601492, MPS IX, Natowicz (MPS IV, Morquio disease)
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mucopolysaccharidosis type IX OMIM:601492, mucopolysaccharidosis type 9 MONDO:0011093