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2q24 microdeletion syndrome

Synonym(s) Del(2)(q24)
Monosomy 2q24
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Antenatal
  • Q93.5
  • C2931816
  • C538316
MedDRA -


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.

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