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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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microphthalmia

Microcephaly 20, Primary, Autosomal Recessive

Bosma Arhinia Microphthalmia Syndrome

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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.

Heart and Brain Malformation Syndrome

Gracile Bone Dysplasia

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Kenny-Caffey Syndrome, Type 2

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Kabuki Syndrome 1

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Chorioretinopathy with Microcephaly 2

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Galloway-Mowat Syndrome

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Familial Exudative Vitreoretinopathy, EVR5

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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