Details of Disease
General Information of Disease (ID: DISYTG1Z)
| Disease Name | LTBP2-related ocular dysgenesis | ||||
|---|---|---|---|---|---|
| Definition |
Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.|The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the three disease entities reported in relation to LTBP2 into LTBP2-related ocular dysgenesis based on similar inheritance patterns and molecular mechanism
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