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  1. PAX2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1451
    ... reflux has spontaneously resolved [ Ford et al 2001 ]. Eye abnormalities. Impaired visual acuity of one or both eyes ... mutation of a PAX gene expressed in the eye Joubert syndrome and related ... features of JSRD. Congenital anomalies of the kidney and urinary tract (CAKUT) ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... most affected individuals have no major birth defects, eye abnormalities, heart defects, and an unusually small head (microcephaly) ... with <html:i >ALG6</html:i>-CDG have eye abnormalities including eyes that do not look in the ...
  3. Stickler syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/stickler-syndrome
    ... hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and ... the lining of the eye ( retinal detachment ). These eye abnormalities cause impaired vision or blindness in some cases. ...
  4. 1q21.1 Recurrent Microdeletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK52787
    ... intellectual disability (30%), mildly dysmorphic facial features, and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary ...
  5. BEST1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/best1
    ... affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities ... gene have been found in individuals who have eye abnormalities such as increased pressure in the eyes (glaucoma); ...
  6. Microphthalmia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/microphthalmia
    ... on official, secure websites. Description Microphthalmia is an eye abnormality that arises before birth. In this condition, one ... vision. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye ( ...
  7. Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1332
    ... hepatopathy, hypotonia/neurologic abnormalities, hypoglycemia, protein-losing enteropathy, eye abnormalities, immunologic findings, skin abnormalities, and skeletal findings [ Rymen & ...
  8. Ocular albinism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/ocular-albinism
    ... permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye ... melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. Rare cases of ...
  9. Alport syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/alport-syndrome
    ... condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of ... tissue at the back of the eye. These eye abnormalities seldom lead to vision loss. Frequency Alport syndrome ...
  10. X-linked chondrodysplasia punctata 2: MedlinePlus Genetics 
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2
    ... is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the ... eye ( cataracts ) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include ...
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