TBC1D24 related disorders comprise a phenotypic spectrum and include:
- DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome
- Familial infantile myoclonic epilepsy (FIME)
- Progressive myoclonus epilepsy (PME)
- Early-infantile epileptic encephalopathy 16 (EIEE16)
- Autosomal recessive nonsyndromic hearing loss, DFNB86
- Autosomal dominant nonsyndromic hearing loss, DFNA65