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GENATLAS PHENOTYPE
last update : 27/08/2008
Symbol DEL14Q12
Location 14q12
Name chromosome 14q12 microdeletion
Other name(s) FOXG1 syndrome
Corresponding gene FOXG1
Main clinical features
  • prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears
  • clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis (see RTTL1)
    • Genetic determination chromosomal
    Prevalence 6 cases reported
    Related entries RTTL1
    Function/system disorder
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   smaller than 3.5 Mb containing only 5 genes with candidate gene FOXG1B
      translocation   disrupting or displacing putative cis-regulatory elements from FOXG1 PMID: 21441262
      deletion haploinsufficiency three interstitial deletions including the PRKD1 gene but not the FOXG1 gene suggesting misregulation of FOXG1 PMID: 22968132
    Remark(s)