Zespół ciężkiej niepełnosprawności intelektualnej, hipotonii, zeza, grubych rysów twarzy i stóp płasko-koślawych

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.