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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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cerebellar atrophy

Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

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Mutations in the TBCE gene result in improper folding of beta-tubulin that is part of the microtubules located in the cytoskeleton.

Epileptic Encephalopathy, Early Infantile 48

Encephalopathy, Early-Onset, With Brain Atrophy and Thin Corpus Callosum

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Improper folding of cellular microtubules secondary to TBCD mutations has devastating consequences in the nervous system.

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.

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

Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2

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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.

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation

Spastic Paraplegia 75

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Infantile Cerebellar-Retinal Degeneration

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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