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Results 1 - 7 of 7 for Nystagmus "2," "congenital," autosomal dominant
  1. ... Because it is unlikely that females will have two altered copies of a particular gene, ... Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma ...
  2. ... 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 ...
  3. ... 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 affected person inherits the ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... few affected families, the disorder has had an autosomal dominant pattern of inheritance, which means one copy of ...
  7. Noonan Syndrome (Mayo Foundation for Medical Education and Research)  
    Genetic Disorders/Specifics ... Genetic Disorders ... Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Mayo Foundation for Medical Education and Research