Proximal 16p11.2 microduplication syndrome

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Synonyms: Proximal dup(16)(p11.2) | Proximal trisomy 16p11.2

Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree autism spectrum obsessive-compulsive attention deficit hyperactivity disorder speech articulation abnormalities muscular hypotonia tremor hyper- or hyporeflexia seizures microcephaly neuroimaging abnormalities decreased body mass index and schizophrenia or bipolar disorder later on in life.

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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Proximal 16p11.2 microduplication syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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