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Results 1 - 5 of 5 for Nystagmus "7," "congenital," autosomal dominant
  1. ... 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 ...
  2. ... 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 ...
  3. ... 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 ... Eur J Hum Genet. 2010 Apr;18(4):393-7. doi: 10.1038/ejhg.2009.125. Epub 2009 ...
  4. ... embryonic development. PAX6 Aniridia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.In approximately two-thirds of cases, an ... Genetic Testing Registry: Aniridia 1 Genetic ...
  5. ... PAX6 PubMed COLOBOMA OF OPTIC NERVE COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ECTOPIA PUPILLAE FOVEAL HYPOPLASIA 1; FVH1 KERATITIS, HEREDITARY ...