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Abnormality of the eye
- ... methionine properly. People with this condition often develop eye problems, abnormal blood clotting, skeletal abnormalities, and learning problems. Most of the mutations that ...
- ... plus syndrome. This disorder is characterized by an eye condition called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other ...
- ... form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. MMACHC gene variants lead to production of an ...
- ... form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. LMBRD1 gene variants involved in this condition lead ...
- ... form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. Individuals with cblJ type often also have skin ...
- ... Pelizaeus-Merzbacher disease have neurological problems including abnormal eye movements (nystagmus) and other movement abnormalities. In addition, these individuals have difficulty walking or ...
- ... This rare condition is characterized by certain brain abnormalities, the presence of extra fingers and toes (polydactyly), and distinctive facial features, including widely spaced eyes (hypertelorism) and a prominent forehead. Most of the ...
- ... gene mutations lead to hearing problems and ovarian abnormalities in affected individuals. More About This Health Condition At least 40 TWNK gene mutations have been identified in people with an eye condition called progressive external ophthalmoplegia. This disorder weakens ...
- ... condition is characterized by neurological problems, including movement abnormalities and seizures; a shortage of white blood cells (neutropenia), which can increase the risk of infections; and clouding of the lenses of the eyes (cataracts). In addition, affected individuals have an increased ...
- ... to the sun, such as the skin and eyes.In addition to sun sensitivity, xeroderma pigmentosum is sometimes associated with progressive neurological abnormalities. In affected individuals with the Phe99Ser variant, neurological ...
