14q11.2 microduplication syndrome
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 April 2024
Newly diagnosed with
14q11.2 microduplication syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
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Clinical Trials
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