ISCA-37494-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ISCA-37494-Gain Region in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.453
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    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