P378: Radio-tartaglia syndrome in males, clinical data indicate a relatively mild phenotype with predominantly psychiatric symptoms

Radio-Tartaglia syndrome (RATARS) (MIM 619312) is a neurodevelopmental disorder caused by heterozygous truncating variants in SPEN on chromosome 1p36. About 34 individuals, predominantly females, have been described. RATARS in females is characterized by developmental motor and speech delay, hypotonia, and severe intellectual disability. The phenotypic spectrum in males is unknown.