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 April 2026
Newly diagnosed with
Distal deletion 12p?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
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