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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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dysarthria

Leukodystrophy, Hypomyelinating, 15

Spastic Paraplegia 5A

Spinocerebellar Ataxia 37

Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

Spinocerebellar Ataxia 3

Ataxia with Oculomotor Apraxia 3

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Kufor-Rakeb Syndrome

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Spastic Paraplegia 78

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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.

Dystonia, Childhood Onset, With Optic Atrophy

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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