7q31 mikrodelesjon


Engelsk navn: 7q31 microdeletion syndrome
Engelske synonym: Del(7)(q31),Monosomy 7q31


Definisjon

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.

Fra Orphanet

ORPHA: 251061
Klassifiseringsnivå: Disorder
ICD-10: Q93.5

Mer informasjon


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