1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder

Definition

  • 1p21.3 microdeletion syndrome is a rare chromosomal anomaly characterized by:
    • Severe speech and language delay.
    • Borderline to mild-moderate intellectual deficiency.
    • Autism spectrum disorder (ASD) features.
    • Minor dysmorphic facial features.

    Classification

    • Orpha Code: ORPHA:293948
    • ICD-10 Code: Q93.5
    • ICD-11 Code: LD44.11
    • UMLS: C4304578
    • Synonyms:
      • Del(1)(p21.3)
      • Monosomy 1p21.3

      Epidemiology

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