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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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developmental delay

Intellectual Disability with Dysmorphic Facies and Ptosis

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ZTTK Syndrome

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation

Eye Movement Disorders with CACNA1A Mutations

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The mutated CACNA1A gene produt blocks normal Ca influx in darkness which interferes with visual fixation and results in a variety of abnormal eye movements.

Multiple Mitochondrial Dysfunctions Syndrome 4

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Gracile Bone Dysplasia

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PEHO Syndrome

Pontocerebellar Hypoplasia 3

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Mental Retardation, AD 34

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Galloway-Mowat Syndrome

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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