In 2017, the homozygous variant c.806 T > C, p.(Phe269Ser) in YARS1 in one individual was associated with poor weight gain (necessitating tube feeding), severe visual impairment caused by progressive-rod-cone degeneration (fundus pigmentation), profound hearing impairment, poor balance and muscular hypotonia during first years of life, stable liver disease with steatosis (later minor fibrotic changes), primary amenorrhea, but normal psychomotor development [14]. Here, YARS1 is linked to Primary amenorrhea.