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Properties
MORBIDMAP
:NAME MM: Opitz-Kaveggia syndrome
:MORBID_ID 305450
:NUM 3
:SYM (MED12 TNRC11 TRAP230 HOPA KIAA0192 OKS FGS1 OHDOX)
:LOCUS Xq13.1
:OMIM_ID 300188
:SNP OPITZ-KAVEGGIA SYNDROME; MED12, ARG961TRP; rs80338758
:AAUSHI OPITZ_KAVEGGIA_SYNDROME
:AAUSHIGENE ACTIVATOR_RECRUITED_COFACTOR_240_KDA_COMPONENT