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Results 1 - 10 of 67 for Cataract 1
  1. Microphthalmia 
    ... Rare Disorders (NORD) ClinicalTrials.gov MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR MICROPHTHALMIA/COLOBOMA ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  2. 1q21.1 microdeletion 
    ... eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
  3. Hyperferritinemia-cataract syndrome 
    ... invasive test procedures such as liver biopsies. Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals. Hyperferritinemia-cataract syndrome is ...
    https://medlineplus.gov/.../hyperferritinemia-cataract-syndrome - Genetics
  4. CTDP1 gene 
    ... books/NBK25565/ Citation on PubMed Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. ...
    https://medlineplus.gov/genetics/gene/ctdp1 - Genetics
  5. Pol III-related leukodystrophy 
    ... with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract. J Neurol Sci. 2011 Jan 15;300(1-2):179-81. doi: 10.1016/j.jns. ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  6. TRNT1 deficiency 
    ... Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction. JAMA Ophthalmol. 2016 Sep 1;134(9):1049-53. doi: 10.1001/jamaophthalmol. ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  7. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... books/NBK25565/ Citation on PubMed Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  8. Autosomal dominant optic atrophy and cataract 
    ... ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one form of autosomal dominant optic atrophy, a group of conditions that are estimated to affect 1 in 30,000 people worldwide, and approximately 1 ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  9. Hypomyelination and congenital cataract 
    ... typically born with a clouding of the lens (cataract) in both eyes.People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  10. RAB18 deficiency 
    ... Martsolf syndrome Genetic Testing Registry: Warburg micro syndrome Cataract-intellectual disability-hypogonadism syndrome Micro syndrome National Organization for Rare Disorders (NORD) MARTSOLF SYNDROME 1; MARTS1 WARBURG MICRO SYNDROME 1; WARBM1 WARBURG MICRO ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
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