Version 1.17
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Literature
Phenotypes
- ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Literature
- Expert Review Red
Phenotypes
- ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Literature
- Expert Review Red
Phenotypes
- ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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
- Literature
- Expert Review Red
Phenotypes
- ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
|