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Results 41 - 50 of 523 for Abnormality of the eye
  1. Pol III-related leukodystrophy 
    ... People with Pol III-related leukodystrophy often have abnormalities in eye movement, such as progressive vertical gaze palsy, which ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  2. ALDH3A2 gene 
    ... condition characterized by dry, scaly skin (ichthyosis); neurological abnormalities; and eye problems. Many of these mutations change single protein ...
    https://medlineplus.gov/genetics/gene/aldh3a2 - Genetics
  3. DOLK-congenital disorder of glycosylation 
    ... can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.Individuals with DOLK-CDG typically do not ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  4. Apert syndrome 
    ... with Apert syndrome have vision problems due to eye abnormalities, which can include bulging eyes (exophthalmos), wide-set eyes (hypertelorism), outside corners of ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  5. NGLY1 gene 
    ... delayed development, movement abnormalities, problems with liver function, eye abnormalities, and a reduction or absence of tears (hypolacrima ...
    https://medlineplus.gov/genetics/gene/ngly1 - Genetics
  6. PAX2 gene 
    ... coloboma syndrome, the PAX2 gene variants associated with eye abnormalities likely disrupt regulation of genes that help direct normal eye development. Researchers are working to understand why variants ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  7. Fraser syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  8. Keratitis-ichthyosis-deafness syndrome 
    Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased ...
    https://medlineplus.gov/.../keratitis-ichthyosis-deafness-syndrome - Genetics
  9. Craniofacial microsomia 
    ... have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.Abnormalities in other ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  10. Townes-Brocks Syndrome 
    ... include kidney abnormalities, mild to profound hearing loss, eye abnormalities, heart defects, foot abnormalities, and genital malformations. These ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
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