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7q31 microdeletion syndrome

ORPHA:251061· ICD-10 Q93.5

Definition

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.

Prevalence
<1 / 1 000 000
Inheritance
Not applicable, Unknown
Age of onset
Infancy, Neonatal