14q11.2 microduplication syndrome

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Synonyms: Dup(14)(q11.2) | Trisomy 14q11.2

14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay mild to severe intellectual disability with speech impairment and epilepsy. Additionally it may include dysmorphic features (such as hypo- or hypertelorism dysplastic ears short palpebral fissures) microcephaly or macrocephaly behavioral abnormalities stereotyped hand movements ataxia hypotonia cleft palate.

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 July 2024

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14q11.2 microduplication syndrome?

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