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Results 1 - 6 of 6 for Nystagmus "4," "congenital," autosomal dominant
  1. 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
  2. Congenital stromal corneal dystrophy 
    ... abnormalities. DCN This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Congenital hereditary stromal dystrophy of the cornea Congenital stromal ...
    https://medlineplus.gov/.../congenital-stromal-corneal-dystrophy - 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 ... 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 
    ... few affected families, the disorder has had 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
  6. PAX6 gene 
    ... PAX6 PubMed COLOBOMA OF OPTIC NERVE COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ECTOPIA PUPILLAE FOVEAL HYPOPLASIA 1; FVH1 KERATITIS, HEREDITARY ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics