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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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thin corpus callosum

Leukodystrophy, Hypomyelinating, 15

Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

Al Kaissi Syndrome

Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies

Pontocerebellar Hypoplasia 7

Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Image

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

Image

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

ZTTK Syndrome

Spastic Paraplegia 11

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College of Medicine
Department of Ophthalmology and Vision Science
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