Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292
- neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Literature
Phenotypes
- Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292
- neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292
- neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
|