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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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muscle atrophy

Brown-Vialetto-Van Laere Syndrome 2

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Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis

Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 2

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Spinocerebellar Ataxia 3

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.

Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 1

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Infantile Cerebellar-Retinal Degeneration

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Multiple Mitochondrial Dysfunctions Syndrome 4

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Spastic Paraplegia 74

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Charcot-Marie-Tooth Disease(s)

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College of Medicine
Department of Ophthalmology and Vision Science
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