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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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

Encephalocraniocutaneous Lipomatosis

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A defective FGFR1 gene product is unable to recognize the appropriate receptor in the cell surface and results in defective cell signaling.

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation

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

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Gracile Bone Dysplasia

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3-methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neurtropenia

Cataracts, Congenital, Deafness, Short Stature, Developmental Delay

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Kabuki Syndrome 2

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Kabuki Syndrome 1

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Kaufman Oculocerebrofacial Syndrome

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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