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
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Victorian Clinical Genetics Services
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Mental Retardation, X-linked
- Mental retardation, X-linked 92, 300851
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