http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBS
“OMIM gene information: 613381 OMIM disorders: 236200
UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
Defects in CBS are the cause of cystathionine beta-synthase deficiency (CBSD) [MIM:236200]. CBSD is an
enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated
homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling
Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include
increased urinary homocystine and methionine.”