Distal duplication 14q

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Synonyms: Telomeric duplication 14q | Trisomy 14qter

Distal trisomy 14q is a rare partial duplication of the long arm of chromosome 14 characterized by variable clinical features most commonly including growth retardation and low birth weight hypotonia developmental delay intellectual disability short stature microcephaly facial dysmorphism (frontal bossing hypertelorism bulbous nose micrognathia sparse hair and eyebrows) congenital heart defects spasticity and hyperreflexia.

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 May 2024

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Distal duplication 14q?

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Clinical Trials

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