Version 0.36
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review
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Not set
|
Sources
|
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
Tags
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
Tags
|
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
|