ZTTK syndrome (original) (raw)

ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic mutation of the SON gene. Common symptoms include developmental delay and sometimes moderate to several intellectual disability. Characteristic abnormalities include cerebral cortex malformations, vision difficulties, musculoskeletal abnormalities and congenital defects. Individuals with a mutation in the SON gene may not all display these features. However, SON loss of function (LoF) variants appear to cause a clinically distinguished phenotype.