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Results 11 - 20 of 124 for Abnormality of the eye
  1. RAB18 gene 
    ... deficiency. Warburg micro syndrome is characterized by multiple eye abnormalities, vision impairment, severe intellectual disability, and a reduction ...
    https://medlineplus.gov/genetics/gene/rab18 - Genetics
  2. TBC1D20 gene 
    ... deficiency. Warburg micro syndrome is characterized by multiple eye abnormalities, vision impairment, severe intellectual disability, and a reduction ...
    https://medlineplus.gov/genetics/gene/tbc1d20 - Genetics
  3. GJA1 gene 
    ... oculodentodigital dysplasia, a condition that is characterized by abnormalities of the eyes (oculo-), teeth (dento-), and fingers (digital). Many of ... between cells early in development likely causes the eye, tooth, and finger abnormalities seen in people with oculodentodigital dysplasia. More About ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  4. FOXC1 gene 
    ... anterior segment of the eye, leading to the eye abnormalities characteristic of Axenfeld-Rieger syndrome. In some cases, ... an elevated risk of increased pressure in the eye (glaucoma).FOXC1 gene ... abnormalities of brain development. Mutations that change single protein ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  5. WDR19 gene 
    ... problems, including a kidney condition called nephronophthisis and eye abnormalities.The WDR19 gene mutations involved in cranioectodermal dysplasia ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  6. COL2A1 gene 
    ... average height and have a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. Several of the ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  7. FKRP gene 
    ... Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes. Because of the severity of the problems caused ... Chitayat D, Blaser S, Ray PN, Vajsar J. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  8. NPHP1 gene 
    ... typically involves neurological problems and can include nephronophthisis, eye abnormalities, liver disease, and other abnormalities. As in nephronophthisis ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  9. ADAMTS10 gene 
    ... function of the lens of the eye, causing eye abnormalities and impaired vision. Additionally, a lack of this ...
    https://medlineplus.gov/genetics/gene/adamts10 - Genetics
  10. COL11A1 gene 
    ... of this condition include a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
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