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Distal deletion 12q

Disease definition

A rare partial deletion of the long arm of chromosome 12 characterized by variable combinations of developmental delay, intellectual disability, behavioral abnormalities, variable dysmorphic facial features (including microcephalus, coarse face, synophrys, epicanthal folds, large bulbous nose, small ears, low-set and posteriorly rotated ears, or large tongue, among others), and other anomalies such as malformations of the hands and fingers/feet and toes, skin and nail abnormalities, and genitourinary and cardiac abnormalities, among others.


Classification level: Disorder
  • Synonym(s):
    • Distal monosomy 12q
    • Monosomy 12qter
    • Telomeric deletion 12q
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • ICD-11: LD44.C0
  • OMIM: -
  • UMLS: C5680262
  • MeSH: -
  • GARD: -
  • MedDRA: -
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