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2q24 microdeletion syndrome

Disease definition

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

ORPHA:1617

  • Synonym(s):
    • Del(2)(q24)
    • Monosomy 2q24
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: C2931816
  • MeSH: C538316
  • GARD: 3746
  • MedDRA: -

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