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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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hypotonia

Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

Carey-Fineman-Ziter Syndrome

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2

PEHO-Like Syndrome

Congenital Heart Defects, Dysmorphic Facies, and Intellectual Developmental Disorder

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Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

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.

Intellectual Disability with Dysmorphic Facies and Ptosis

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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