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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- Literature
Phenotypes
- Stocco dos Santos X-linked mental retardation syndrome, 300434
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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
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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 Amber
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Stocco dos Santos X-linked mental retardation syndrome, 300434
- Intellectual disability
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