Properties

MORBIDMAP :NAME MM: SC phocomelia syndrome :MORBID_ID 269000 :NUM 3 :SYM (ESCO2) :LOCUS 8p21.1 :OMIM_ID 609353 :SNP ROBERTS SYNDROME; ESCO2, TRP539GLY; rs80359868 ROBERTS SYNDROME; ESCO2, ARG169TER; rs80359849 ROBERTS SYNDROME; ESCO2, 1-BP INS, 750G; rs80359852 SC PHOCOMELIA SYNDROME; ESCO2, 1-BP INS, 750A; rs80359853 SC PHOCOMELIA SYNDROME; ESCO2, TRP423TER; rs80359864 SC PHOCOMELIA SYNDROME; ESCO2, GLN202TER; rs80359850 SC PHOCOMELIA SYNDROME; ESCO2, 1-BP DEL, 752A; rs80359854 :AAUSHI SC_PHOCOMELIA_SYNDROME :AAUSHIGENE N_ACETYLTRANSFERASE_ESCO2