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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, 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
- Chromosome Xq28 duplication syndrome, 300815
- X linked intellectual disability (XLID)
- PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features
- duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes
- PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip)
- PMID:24357492 Cognitive impairment in male patients
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