Properties

MORBIDMAP :NAME MM: Hoyeraal-Hreidarsson syndrome :MORBID_ID 300240 :NUM 3 :SYM (DKC1 DKCX) :LOCUS Xq28 :OMIM_ID 300126 :SNP HOYERAAL-HREIDARSSON SYNDROME; DKC1, THR49MET; rs121912304 HOYERAAL-HREIDARSSON SYNDROME; DKC1, SER121GLY; rs121912305 HOYERAAL-HREIDARSSON SYNDROME; DKC1, ILE38THR; rs28936072 :AAUSHI HOYERAAL_HREIDARSSON_SYNDROME :AAUSHIGENE DYSKERIN