Yue Y, Stout K, Grossmann B et al : Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections. J Med Genet 2006; 43 : 143–147. 25. [doi.org]

He had brachydactyly and single crease bilaterally. His parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation. [doi.org]

The patient showed macrocephaly and peculiar facial features, such as heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth and full lips. [doi.org]

Childhood apraxia of speech (CAS) is a neurological childhood (pediatric) speech sound disorder in which the precision and consistency of movements underlying speech are impaired in the absence of neuromuscular deficits (e.g. abnormal reflexes, abnormal [asha.org]

abnormal reflexes, abnormal tone). CAS may occur as a result of known neurological impairment, in association with complex neurobehavioral disorders of known or unknown origin, or as an idiopathic neurogenic speech sound disorder. [en.wikipedia.org]

abnormal reflexes, abnormal tone)"[ 8 ]. As in other apraxias (for example, limb apraxia and nonverbal oral apraxia), only volitional (willful, purposeful) movement patterns are affected. [doi.org]

cognitive impairment, 5 Asperger syndrome, 6 autism spectrum disorder, 2, 7 dyslexia, 2 and individuals with aggression, hyperactivity, schizophrenia, bipolar disorder, and symptoms of obsessive-compulsive disorder. 7 More recently, the 16p11.2 microdeletion [doi.org]