Ontology highlight
ABSTRACT:
SUBMITTER: Raca G
PROVIDER: S-EPMC3598318 | biostudies-other | 2013 Apr
REPOSITORIES: biostudies-other
European journal of human genetics : EJHG 20120822 4
We report clinical findings that extend the phenotype of the ~550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2- ...[more]