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Results 1 - 5 of 5 for Nystagmus "4," "congenital," autosomal dominant
  1. Congenital stromal corneal dystrophy 
    ... the other eye abnormalities seen in people with congenital stromal corneal dystrophy. DCN This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../congenital-stromal-corneal-dystrophy - Genetics
  2. Leber congenital amaurosis 
    ... signs and symptoms of the disease.When Leber congenital amaurosis is caused by varaints in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  3. Gillespie syndrome 
    ... of Gillespie syndrome, the condition occurs in an autosomal dominant pattern, which means one copy of the altered ... no history of the disorder in their family. Autosomal dominant cases of Gillespie syndrome are thought to arise ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  4. Aniridia 
    ... embryonic development. PAX6 Aniridia is inherited in an autosomal dominant pattern, which means one copy of the altered ... Genetic Testing Registry: Aniridia 1 Genetic Testing Registry: Congenital aniridia Isolated ... Chao LY, Huff V, Strong LC, Saunders GF. Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat. 2000;15(4):332-9. doi: 10.1002/(SICI)1098-1004( ...
    https://medlineplus.gov/genetics/condition/aniridia - Genetics
  5. Septo-optic dysplasia 
    ... condition. In other cases, the condition has an autosomal dominant pattern of inheritance, which means one copy of ... Beddington RS. Heterozygous HESX1 mutations associated with isolated congenital ... dysplasia. Eur J Hum Genet. 2010 Apr;18(4):393-7. doi: 10.1038/ejhg.2009.125. ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics