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Results 1 - 10 of 30 for Congenital cataract
  1. Hypomyelination and congenital cataract 
    Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a ... the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  2. Congenital cataracts, facial dysmorphism, and neuropathy 
    Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  3. Hyperferritinemia-cataract syndrome 
    ... the disorder. Bonneau-Beaumont syndrome Hereditary hyperferritinemia with congenital cataracts Hereditary hyperferritinemia-cataract syndrome HHCS Genetic Testing Registry: ...
    https://medlineplus.gov/.../hyperferritinemia-cataract-syndrome - Genetics
  4. FAM126A gene 
    ... gene have been found to cause hypomyelination and congenital cataract. Most mutations delete a large portion of the ... characteristic features seen in people with hypomyelination and congenital cataract. More About This Health Condition DRCTNNB1A family with ...
    https://medlineplus.gov/genetics/gene/fam126a - Genetics
  5. CTDP1 gene 
    ... Gene ClinVar Kalaydjieva L, Chamova T. CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy. 2010 Mar 2 [updated ... gov/books/NBK25565/ Citation on PubMed Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 ...
    https://medlineplus.gov/genetics/gene/ctdp1 - Genetics
  6. EYA1 gene 
    ... eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  7. Trichothiodystrophy 
    ... of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  8. Lowe syndrome 
    ... thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  9. CAV1 gene 
    ... the lens of the eyes starting at birth (congenital cataracts). The CAV1 gene mutations that cause this condition ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  10. CLPB deficiency 
    ... 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
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