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GENATLAS PHENOTYPE
last update : 23-11-2020
Symbol DEL10PP
Location 10p11p12
Name chromosome 10p proximal deletions
Corresponding gene WAC , ARMC4 , MPP7 , BAMBI
Main clinical features
  • developmental delay and abnormal behaviour
  • dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, marked midface retrusion whereas other features varied
  • various visual impairments and cardiac malformations. PMID: 21522184
  • pseudoarthrosis of the clavicle and copper beaten skull described in 1 case
  • Genetic determination chromosomal
    Function/system disorder
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   partially overlapping microdeletions 10p12.31p11.2 ranging from 1.0 to 10.6 Mb. The smallest region of overlap is 306 kb, which includes WAC gene
    Remark(s)