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GENATLAS PHENOTYPE
last update : 17-10-2012
Symbol DEL10PT
Location 10p15.3
Name chromosome 10p subtelomeric deletion
Corresponding gene ZMYND11 , DIP2C
Main clinical features
  • cognitive/behavioral/developmental differences (11/11), speech delay/language disorder (10/10), motor delay (10/10), craniofacial dysmorphism (9/12), hypotonia (7/11), brain anomalies (4/6) and seizures (3/7), PMID: 22847950
    • Genetic determination chromosomal
    Prevalence 19 unrelated individuals described
    Function/system disorder
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency ranging in size from ~154 kb to ~4 Mb
    Remark(s) ZMYND11 and DIP2C are the most commonly deleted genes