Properties

MORBIDMAP :NAME MM: Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency :MORBID_ID 608931 :NUM 3 :SYM (RAPSN CMS1D CMS1E) :LOCUS 11p11.2 :OMIM_ID 601592 :SNP MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; RAPSN, ASN88LYS; rs104894299 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; RAPSN, LEU14PRO; rs104894300 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; RAPSN, TYR269TER; rs104894301 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; RAPSN, LEU283PRO; rs104894293 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; RAPSN, ARG164CYS; rs104894294 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; RAPSN, VAL45MET; rs121909254 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; RAPSN, GLU162LYS; rs121909255 :AAUSHI MYASTHENIC_SYNDROME :AAUSHIGENE 43_KDA_RECEPTOR_ASSOCIATED_PROTEIN_OF_THE_SYNAPSE