vitalwiki

Синдром мікроделеції 7q31

ORPHA:251061· ICD-10 Q93.5· 7q31 microdeletion syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Not applicable, Unknown
Вік початку
Infancy, Neonatal