eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | homocystinuria due to cystathionine beta-synthase deficiency |
| Comorbidity | C0027092|myopia |
| Sentences | 1 |
| PubMedID- 25939413 | Homocystinuria due to cystathionine-beta-synthase deficiency (cbs deficiency) usually presents with ectopia lentis, myopia, intellectual disability, skeletal anomalies resembling marfan syndrome, and thromboembolic events. |
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