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Abnormality of the eye
- ... time. This loss of photoreceptors underlies the retinal abnormalities and ... retinitis pigmentosa, an eye disease that first disrupts night vision and side ( ...
- ... seizures, behavioral problems, and delayed development. The specific ... addition to the eyes. Variants that delete or change single amino acids ...
- ... to the sun, such as the skin and eyes.When xeroderma pigmentosum is caused by XPA gene variants, it is often associated with progressive neurological abnormalities. These nervous system problems include hearing loss, poor ...
- ... to the sun, such as the skin and eyes.When xeroderma pigmentosum is caused by ERCC2 gene variants, it is often associated with progressive neurological abnormalities. These nervous system problems include hearing loss, poor ...
- ... have Dandy-Walker malformation, which is a structural abnormality of the ... the eye (coloboma), and intellectual disabilities. The condition is found ...
- ... the characteristic features of CFEOM such as restricted eye movement and droopy eyelids. Researchers suspect that abnormal growth of neurites within the brain leads to brain abnormalities that underlie intellectual disability and other neurological problems ...
- ... 190 of S-opsin causes S-cone-function abnormalities. Vision Res. 2012 Nov 15;73:1-9. doi: 10.1016/j.visres.2012.09.007. Epub 2012 Sep 26. Citation on PubMed or Free article on PubMed Central Calkins DJ. Seeing with S cones. Prog Retin Eye Res. 2001 May;20(3):255-87. doi: ...
- ... affects development before birth and is characterized by eyes that are completely covered by skin (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the kidneys and other organs and tissues. ...
- ... affects development before birth and is characterized by eyes that are completely covered by skin (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the kidneys and other organs and tissues. ...
- ... affects development before birth and is characterized by eyes that are completely covered by skin (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the kidneys and other organs and tissues. ...