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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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spasticity

Spastic Paraplegia 5A

Epileptic Encephalopathy, Early Infantile 58

Epileptic Encephalopathy, Infantile or Early Childhood 2

Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

Combined Oxidative Phosphorylation Deficiency 32

Encephalopathy, Progressive, Early-Onset, wtih Brain Atrophy and Spasticity

Spinocerebellar Ataxia 3

Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

Spastic Paraplegia 78

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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.

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College of Medicine
Department of Ophthalmology and Vision Science
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