Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 15-12-2010
Symbol DEL7Q1123
Location 7q11.23
Name chromosome 7q11.23 microdeletion, distally adjacent to WBS common deletion
Main clinical features
  • variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities
  • Ramocki, 2010 PMID: 21109226
  • Genetic determination chromosomal
    genomic disorder
    Related entries WBS
    Function/system disorder neurology
    psychiatry disorder
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   common recurrent ~1.2 Mb deletion that includes HIP1 and YWHAG genes and that is flanked by large complex low-copy repeats
      deletion   smaller, nonrecurrent deletions (~180500 kb) that include HIP1 but not YWHAG suggest that deletion of HIP1 is sufficient to cause neurological disease
    Remark(s)
    Genotype/Phenotype correlations Three individuals with smaller, nonrecurrent deletions (~180500 kb) that include HIP1 but not YWHAG suggest that deletion of HIP1 is sufficient to cause neurological disease