Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 17-01-2011
Symbol DEL16P112D
Location 16p11.2
Name chromosome 16p11.2 distal microdeletion syndrome, 220kb
Corresponding gene SH2B1
Main clinical features
  • incomplete penetrance and variable expressivity
  • co-segregating with severe obesity in some patients (Bochukova, 2010; Walters,2010; PMID: 20808231))
  • the reciprocal duplication does not seem to be pathogenic, PMID:20808231
  • Genetic determination chromosomal
    chromosomal
    Function/system disorder
    Remark(s)