7q31 microdeletion syndrome

Orpha code: 251061OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Del(7)(q31)
Del(7)(q31)
Monosomia 7q31
Monosomy 7q31
Kod ORPHA
251061
Kod OMIM
-
Kod ICD10
Q93.5
Kod ICD11
-

No additional description.

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