A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.
Comprehensive, easy-to-understand information about this condition
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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.