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Phenotypic spectrum associated with de novo DHDDS variants. (A) Prevalence of signs and symptoms in patients with de novo DHDDS variants (n = 25). (B) Frequency of the core clinical features in patients with de novo DHDDS variants. (C) Frequency of movement disorder (MD) subtypes; 20 of 25 patients had >1 movement disorder subtype. (D) Frequency of seizure types. (E) Frequency of neuropsychiatric features. The number of affected patients is reported in each graph bar (B–E).
