Clinical Characteristics

The clinical features of autosomal recessive TBC1D24 pathogenic variants fall along a phenotypic spectrum with variable severity ranging from a mild form of familial infantile myoclonic epilepsy (FIME) to a combination of epilepsy with variable other features, to DOORS syndrome.

Other manifestations that have been observed include parkinsonism, ataxia, dysarthria, axial hypotonia, hearing loss, visual impairment, mild dysmorphic facial features, developmental delay or intellectual disability, and microcephaly.