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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
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- Expert list
Phenotypes
- PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features
- deletion results in skewed chromosome X inactivation and no clinical phenotype in females
- PMID: 21984752 in utero male lethality with deletions
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