KARS1
lysyl-tRNA synthetase 1
Ассоциированные заболевания
Герминативная мутация (причина)4
Autosomal recessive intermediate Charcot-Marie-Tooth disease type BORPHA:254334
→Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndromeORPHA:3240
→Rare autosomal recessive non-syndromic sensorineural deafness type DFNBORPHA:90636
→Adult-onset progressive leukoencephalopathy-early-onset deafnessORPHA:652532
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