7q31 microdeletion syndrome

Orpha code: 251061OMIM code:

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.

Disease data
Classification

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl