3q13 microdeletion syndrome

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Synonyms: Del(3)(q13) | Monosomy 3q13

3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable but it is primarily characterized by significant developmental delay postnatal growth above the mean muscular hypotonia and distinctive facial features (such as broad and prominent forehead hypertelorism epicantic folds anti-mongloid slanted eyes ptosis short philtrum protruding lips with a full lower lip high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.

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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3q13 microdeletion syndrome?

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