Distal deletion 12p
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 September 2023.
Newly diagnosed with
Distal deletion 12p?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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