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COL4A1/A2-related disorder
A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene.
- Identifiers
- MONDO:1010150
- Part of
- Hereditary disease
- Also known as
- COL4A1/A2 syndrome · Gould syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| COL4A1-related disorder | 5 |
| Brain small vessel disease 2A, autosomal dominant |
Projects
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