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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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hyperreflexia

Spastic Paraplegia 5A

Epileptic Encephalopathy, Early Infantile 58

Combined Oxidative Phosphorylation Deficiency 32

Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset

Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2

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Heart and Brain Malformation Syndrome

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.

Leukodystrophy, Hypomyelinating, 13

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College of Medicine
Department of Ophthalmology and Vision Science
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