To our knowledge, 7 cases with “NAA20-related syndrome” have been described so far in the literature. At the time of description, the age of the patients ranged from 2 years and 8 months to 27 years.
All had a history of global developmental delay. Recurrent features were the presence of microcephaly, intellectual disability, some dysmorphic features such as arched/broad eyebrows, thick eyelashes, abnormal dentition. There was also a variable presence of ataxia, hypotonia, cardiac malformations and seizures.
NAA20