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GENATLAS PHENOTYPE
last update : 07-09-2011
Symbol DEL5Q31.1
Location 5q31.1
Name chromosome 5q31 deletions
Corresponding gene PITX1
Main clinical features DD, short stature, club feet, cleft or high palate, dysmorphic features, and skeletal anomalies, PMID: 21744490
Genetic determination chromosomal
Function/system disorder
Type MCA/MR
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
  deletion   PMID: 21744490, three individuals with deletions and two individuals with duplications at 5q31.1, ranging from 3.6 Mb to 8.1 Mb and 830 kb to 3.4 Mb in size, respectively
Remark(s)