TBC1D24
TBC1 domain family member 24
Ассоциированные заболевания
Герминативная мутация (причина)5
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeORPHA:163727
→Focal epilepsy-intellectual disability-cerebro-cerebellar malformationORPHA:352587
→Rare autosomal dominant non-syndromic sensorineural deafness type DFNAORPHA:90635
→Rare autosomal recessive non-syndromic sensorineural deafness type DFNBORPHA:90636
→DOORS syndromeORPHA:79500
→Disease-causing germline mutation(s) (loss of function) in3