19p13.12 microdeletion syndrome

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19p13.12 microdeletion syndrome

Synonyms: Del(19)(p13.12) | Monosomy 19p13.12

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay language delay bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.

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 October 2023.

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19p13.12 microdeletion syndrome?

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