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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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cerebral atrophy

Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis

Ayme-Gripp Syndrome

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.

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.

Heart and Brain Malformation Syndrome

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

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College of Medicine
Department of Ophthalmology and Vision Science
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