Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- MENTAL RETARDATION, FRA12A TYPE 136630
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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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Victorian Clinical Genetics Services
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mental retardation, FRA12A type, 136630
- MENTAL RETARDATION, FRA12A TYPE
Tags
- nucleotide-repeat-expansion
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