3q27.3 microdeletion syndrome

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3q27.3 microdeletion syndrome

Synonyms: Del(3)(q27.3)

3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 3 characterized by mild to severe intellectual disability neuropsychiatric disorders of the psychotic and dysthymic spectrum mild distinctive facial dysmorphism (incl. slender face deep-set eyes high nasal bridge with a hooked nose small low- set ears short philtrum small mouth with thin upper lip prognathism) and a marfanoid habitus.

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 September 2023.

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3q27.3 microdeletion syndrome?

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