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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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scoliosis

Baker-Gordon Syndrome

Myopathy, Mitochondrial Anomalies, and Ataxia

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

Carey-Fineman-Ziter Syndrome

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.

Rubinstein-Taybi Syndrome 2

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation

Spastic Paraplegia, Optic Atrophy, and Neuropathy

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3

Kabuki Syndrome 2

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College of Medicine
Department of Ophthalmology and Vision Science
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