Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- Literature
Phenotypes
- Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
- Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.6
Latest signed off version: v4.5
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
- Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.33
Latest signed off version: v4.32
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
- Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
- Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
|