TET3-Related Beck-Fahrner Syndrome

CLINICAL CHARACTERISTICS: TET3-related Beck-Fahrner syndrome (TET3-BEFAHRS) is a condition within the spectrum of mendelian disorders of the epigenetic machinery (MDEMs) or chromatinopathies. Clinical features typically include intellectual disability / developmental delay ranging from mild to severe affecting both motor and language skills. Most affected individuals are verbal and ambulatory, with most walking by age 15-36 months. Hypotonia in infancy and childhood can exacerbate motor and…

via https://pubmed.ncbi.nlm.nih.gov/37200470/?utm_source=no_user_agent&utm_medium=rss&utm_campaign=None&utm_content=1lqZ3NPYysePVKsoyz66mDSgu4veDGJwnUBS47TBQPoOuNZY5J&fc=None&ff=20230530011009&v=2.17.9.post6+86293ac

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