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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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cataracts

Spastic Paraplegia 5A

Cataracts and Ichthyosis

Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability

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.

Retinitis Pigmentosa 77

Anterior Segment Dysgenesis 8

Aniridia 3

Aniridia 2

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Cataracts, Congenital, Intellectual Disability, Abnormal Striatum, and ADHD

Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

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College of Medicine
Department of Ophthalmology and Vision Science
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