Non-distal deletion 12q
Synonyms: Non-distal monosomy 12q | Non-telomeric monosomy 12q
A partial autosomal monosomy characterized by variable combination of developmental delay intellectual disability ectodermal genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Non-distal deletion 12q?
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