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124
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Abnormality of the eye
- ... macromelanosomes) are related to vision loss and other eye abnormalities in people with ocular albinism.Most forms of ...
- ... Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes. Because of the severity of the problems caused ... 1D (MDC1D). This condition causes muscle weakness, brain abnormalities, and ... affect the eyes. As in Walker-Warburg syndrome (described above), LARGE1 ...
- ... dystrophies. Walker-Warburg syndrome causes muscle weakness and abnormalities of the brain and eyes. Because of the severity of the problems caused ... related congenital muscular dystrophy causes muscle weakness, brain ... affect the eyes.POMT2 gene mutations that cause these conditions result ...
- ... Walker-Warburg syndrome have skeletal muscle weakness and abnormalities of the brain and eyes. Because of the severity of the problems caused ... related congenital muscular dystrophy causes muscle weakness, brain ... affect the eyes.POMT1 gene mutations that cause these conditions result ...
- ... called nevus sebaceous (described above) in addition to abnormalities of the brain, eyes, or bones. Problems with these other systems can ...
- ... by the growth of noncancerous tumors and other abnormalities in the brain, eyes, and skin. The variants that cause ECCL are ...
- ... loss, and problems with eye movement caused by abnormalities of the muscles that surround the eyes (extraocular muscles).The SALL4 gene mutation responsible for ...
- ... Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes. Because of the severity of the problems caused ...
- ... and malformations of the hands and feet. Neurological abnormalities, such as brain or eye malformations and intellectual disability, are more common in ...
- ... abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences ...