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Abnormality of globe location
- ... to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be ... of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease ...
- ... spaced eyes (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid ( ...
- ... corneal opacity, or they can result in minor eye abnormalities including small, faint opacities. It is likely that mutations that cause a complete absence of protein function result in the most severe eye problems. It is unknown why both eyes are ...
- Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
- ... they may be small (microphthalmia) or missing (anophthalmia). Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. Affected individuals can have other problems related to abnormal eye development, including missing eyebrows or eyelashes or a ...
- ... and symptoms of cat-eye syndrome, including an eye abnormality called an iris coloboma (a gap or split in the colored part of the eye), small skin tags or pits in front of ...
- ... of nearsightedness (myopia), farsightedness (hyperopia), astigmatism , or another eye abnormality. Near vision test: Not being able to read ...
- ... B3GLCT gene. Peters plus syndrome is characterized by eye abnormalities, short stature, intellectual disability, and distinctive facial features. ...
- Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Autoimmune Diseases/Specifics ... Autoimmune Diseases ... Genetic and Rare Diseases Information Center ... From ...
- ... loss of intellectual functions (dementia), hearing loss, and abnormalities involving the eyes and vision.Most of the body's cells ...