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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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epilepsy

Epileptic Encephalopathy, Early Infantile 47

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Mutations in the FGF12 gene, whose product is one of the fibroblast growth factor family, has widespread impacts in the eye and CNS.

GM3 Synthase Deficiency

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Mowat-Wilson Syndrome

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Organoid Nevus Syndrome

Pantothenate Kinase-Associated Neurodegeneration

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College of Medicine
Department of Ophthalmology and Vision Science
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