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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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tremor

Combined Oxidative Phosphorylation Deficiency 32

Kufor-Rakeb Syndrome

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Spinocerebellar Ataxia 42

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The abnormal gene product of mutated CACNA1G impacts firing patterns in neurons and other cells resulting in widespread CNS malfunction.

Cataracts, Ataxia, Short Stature, and Mental Retardation

Neurodegeneration with Brain Iron Accumulation

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Gillespie Syndrome

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Pantothenate Kinase-Associated Neurodegeneration

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Optic Atrophy 3 and Cataracts

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Optic Atrophy 2, X-Linked

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College of Medicine
Department of Ophthalmology and Vision Science
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