CLINICAL CHARACTERISTICS: The features of CNOT1-related Vissers-Bodmer syndrome (CNOT1-VIBOS) comprise a spectrum, including developmental delay / intellectual disability (mild to profound; some individuals have normal intelligence), infantile hypotonia that typically improves or resolves with age, infant feeding difficulties / dysphagia, epilepsy of varying types, nonspecific brain malformations (including holoprosencephaly in those who have the c.1603C>T [p.Arg535Cys] pathogenic variant),…
