Properties

MORBIDMAP :NAME MM: Cornelia de Lange syndrome 1 :MORBID_ID 122470 :NUM 3 :SYM (NIPBL CDLS1) :LOCUS 5p13.2 :OMIM_ID 608667 :SNP CORNELIA DE LANGE SYNDROME 1; NIPBL, MET1LYS; rs121918264 CORNELIA DE LANGE SYNDROME 1; NIPBL, TYR2430CYS; rs121918265 CORNELIA DE LANGE SYNDROME 1; NIPBL, ILE1206DEL; rs121918266 CORNELIA DE LANGE SYNDROME 1; NIPBL, ARG1723TER; rs121918267 CORNELIA DE LANGE SYNDROME 1; NIPBL, ALA1246GLY; rs121918268 CORNELIA DE LANGE SYNDROME 1; NIPBL, ARG1536TER; rs121918269 :AAUSHI CORNELIA_DE_LANGE_SYNDROME_1 :AAUSHIGENE NIPPED_B_LIKE_PROTEIN