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Abnormality of vision
- ... Warburg micro syndrome is characterized by multiple eye abnormalities, vision impairment, severe intellectual disability, and a reduction of the hormones that direct sexual development (hypogonadotropic ... brain abnormalities, and other features of Warburg micro syndrome. More ...
- ... 190 of S-opsin causes S-cone-function abnormalities. Vision Res. 2012 Nov 15;73:1-9. doi: ...
- ... affecting other parts of the body, including genital abnormalities, vision impairment, distinctive facial features, and extra (supernumerary) fingers. ...
- ... Warburg micro syndrome is characterized by multiple eye abnormalities, vision impairment, severe intellectual disability, and a reduction of ...
- ... neuropathy), intellectual disability or other cognitive problems, eye abnormalities, impaired vision, hair abnormalities, hypogonadotropic hypogonadism, and reduced function of ...
- ... growth characterized by short stature (dwarfism), other skeletal abnormalities, and problems with vision and hearing. Most of the variants that cause ... of bone growth is characterized by dwarfism, skeletal abnormalities, and ... The COL2A1 gene variants that cause spondyloepimetaphyseal dysplasia, ...
- ... degeneration. These retinal disorders are characterized by progressive vision abnormalities, although their signs and symptoms are distinct from retinitis pigmentosa.Several additional RPGR gene mutations have been reported in ... vision loss, affected individuals can have chronic respiratory and ...
- ... of the lens of the eye, causing eye abnormalities and impaired vision. Additionally, a lack of this enzyme may disrupt ...
- ... time. This loss of photoreceptors underlies the retinal abnormalities and progressive vision loss characteristic of vitelliform macular dystrophy. It is ...
- ... multiple bone fractures. Affected individuals also have eye abnormalities that cause vision impairment from birth or early infancy. Many of ...
