2p13.2 microdeletion syndrome

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Synonyms: Del(2)(p13.2)

A rare partial autosomal monosomy characterized by global development delay intellectual disability behavioral abnormalities (hyperactivity attention deficit and autistic behaviors) brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions mild contractures of knees and elbows and feeding difficulties during infancy.

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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2p13.2 microdeletion syndrome?

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