Distal deletion 12p

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Synonyms: 12p13.33 microdeletion syndrome | Del(12)(p13.33) | Distal monosomy 12p

A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech mild intellectual disability behavourial abnormalities (autistic spectrum disorder attention deficit hyperactivity disorder anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity hernias and microcephaly.

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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Distal deletion 12p?

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