Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 04-03-2009
Symbol DEL6Q1
Location 6q11q14
Name chromosome 6q1 deletions
Corresponding gene COL12A1
Main clinical features
  • umbilical hernia, hypotonia, short stature,
  • characteristic facial features of upslanting palpebral fissures, low set and/or dysplastic ears, high arched palate,
  • urinary tract anomalies, and skeletal/limb anomalies
  • connective tissue disorder with marked joint laxity
    • Genetic determination chromosomal
    Prevalence < 20 patients reported
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   non-recurrent interstitial deletions
      deletion   four patients with a SRO of 3.7 Mb, developmental delay, mild dysmorphism and signs of lax connective tissue PMID: 20685673
    Remark(s)