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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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micrognathia

Myopathy, Mitochondrial Anomalies, and Ataxia

Fraser Syndrome 3

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Carey-Fineman-Ziter Syndrome

Retinitis Pigmentosa With or Without Skeletal Anomalies

Encephalopathy, Early-Onset, With Brain Atrophy and Thin Corpus Callosum

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Improper folding of cellular microtubules secondary to TBCD mutations has devastating consequences in the nervous system.

Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 1

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Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair

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Vici Syndrome

Acrofacial Dysostosis, Cincinnati Type

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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