2q24 microdeletion syndrome

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Synonyms: Del(2)(q24) | Monosomy 2q24

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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2q24 microdeletion syndrome?

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