14q11.2 microdeletion syndrome
Synonyms: Del(14)(q11.2) | Monosomy 14q11.2
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay hypotonia and facial dysmorphism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
14q11.2 microdeletion syndrome?
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Rare Chromosome Disorder Support Group – Unique
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