Level 2: Viral research
Version 1.141
|
review
|
Unknown
|
Sources
- Expert list
- OMIM
- Expert Review Red
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Mucopolysaccharidosis-plus syndrome OMIM:617303
- mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Other
Phenotypes
- Mucopolysaccharidosis-plus syndrome OMIM:617303
- mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Tags
|