Properties

MORBIDMAP :NAME MM: Cutis laxa, autosomal recessive, type IB :MORBID_ID 614437 :NUM 3 :SYM (EFEMP2 FBLN4 UPH1 ARCL1B) :LOCUS 11q13.1 :OMIM_ID 604633 :SNP CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; EFEMP2, GLU57LYS; rs119489101 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; EFEMP2, ARG279CYS; rs119489102 :AAUSHI CUTIS_LAXA :AAUSHIGENE EGF_CONTAINING_FIBULIN_LIKE_EXTRACELLULAR_MATRIX_PROTEIN_2