Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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
- X linked intellectual disability (XLID)
- PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate
- PMID:22840365 Mild intellectual disability
- PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22)
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