Non-distal deletion 12q

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Non-distal deletion 12q?

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