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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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optic nerve hypoplasia

Microcephaly 20, Primary, Autosomal Recessive

Epileptic Encephalopathy, Early Infantile 58

Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

Coloboma, Microphthalmia, Albinism, and Deafness

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Mutations in the MITF gene result in a defective transcription factor protein product that reduces the number of melanocytes thereby impacting multiple organ systems.

Optic Atrophy 11

Chorioretinopathy with Microcephaly 3

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Cerebral Atrophy, Autosomal Recessive

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Microphthalmia, Syndromic 5

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Meckel Syndrome

Blue Diaper Syndrome

Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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