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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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psychomotor delay

Mental Retardation, AD 57

Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis

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.

Optic Atrophy 11

Epileptic Encephalopathy, Early Infantile 47

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Mutations in the FGF12 gene, whose product is one of the fibroblast growth factor family, has widespread impacts in the eye and CNS.

Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2

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Leukodystrophy, Hypomyelinating, 13

Hyperphosphatasia with Mental Retardation Syndrome 6

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

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

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College of Medicine
Department of Ophthalmology and Vision Science
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