Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 11-01-2012
Symbol DEL7Q31
Location 7q31.1
Name chromosome 7q interstitial deletion, including band q31
Other name(s) partial monosomy of 7q31
Corresponding gene FOXP2
Main clinical features
  • speech and language impairment , oromotor dyspraxia
  • patients were not able to laugh, cough, or sneeze spontaneously PMID: 22106036
  • mild dysmorphic features, mild psychomotor delay
  • Genetic determination chromosomal
    Prevalence about 15 published cases
    Related entries SPCH1, AUTS1
    Function/system disorder mental retardation
    multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   smallest deletion size including FOXP2 is 9.1 Mb
      breakpoint   in a t(5;7)(q22;q31.2)
    Remark(s)