phenotype

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. The speech, language and cognitive profile...

SCIENCE: Speech and swallowing abnormalities in adults with POLG associated ataxia

• 100% of patients with POLG-A present with dysarthria and dysphagia • POLG patients without ataxia do not present with speech or...