Distal deletion 14q

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Synonyms: Distal monosomy 14q | Telomeric deletion 14q

Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay hypotonia congenital heart defects dysmorphic features (high forehead small palpebral fissures epicanthi blepharophimosis broad and flat nasal bridge broad philtrum thin upper lip high arched palate pointed chin malformed ears). High-pitched weak cry seizures and various dental and oftalmological anomalies were also reported.

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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Distal deletion 14q?

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