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Hereditary eye diseases
- ... of retinoblastoma in both eyes.In the non-hereditary form of retinoblastoma, typically only one eye is affected and there is no family history of the disease. Affected individuals are born with two normal copies ...
- Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.People with Alport syndrome experience progressive ...
- ... yellowing of the skin and whites of the eyes (jaundice), an enlarged liver ... with hereditary fructose intolerance develop a dislike for fruits, juices, ...
- Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of ...
- ... history of the disorder in their family. Fong disease Hereditary onycho-osteodysplasia Hereditary osteo-onychodysplasia Osterreicher syndrome Pelvic ...
- ... neuropathy Agenesis of corpus callosum with polyneuropathy Charlevoix disease Hereditary motor and sensory neuropathy with agenesis of the ...
- ... the condition. Adult Refsum disease ARD Classic Refsum disease CRD Hereditary motor and sensory neuropathy type IV Heredopathia atactica polyneuritiformis HMSN IV HMSN type IV Phytanic acid storage disease Refsum syndrome Refsum's disease Genetic Testing Registry: ...
- ... Central Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. 2006 Feb; ...
- ... deficiency disease Lipoprotein deficiency disease, HDL, familial Tangier disease neuropathy Tangier hereditary neuropathy Genetic Testing Registry: Tangier disease Tangier disease ...
- ... diffusum Angiokeratoma diffuse Ceramide trihexosidase deficiency Fabry's disease GLA deficiency Hereditary dystopic lipidosis Genetic Testing Registry: Fabry disease Fabry ...