7q31 microdeletion syndrome
Synonyms: Del(7)(q31) | Monosomy 7q31
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder predominantly presenting as an apraxia of speech sometimes associated with oral motor dyspraxia dysarthria receptive and expressive language disorder and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.
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 2024
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7q31 microdeletion syndrome?
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