... X-LINKED; MYP13 MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18 MYOPIA 3, AUTOSOMAL DOMINANT; MYP3 MYOPIA 6; MYP6 MYOPIA 17, AUTOSOMAL DOMINANT; MYP17 MYOPIA ...

... 1 Genetic Testing Registry: Sick sinus syndrome 2, autosomal dominant Genetic Testing Registry: Sick sinus syndrome 3, susceptibility to Sinus node disease and myopia National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...

... called the RAS/MAPK signaling pathway, so these three conditions are sometimes referred to as RASopathies. These ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... TUBA1A gene, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... ...

... V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan; ...

... I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered ... their family.Marshall syndrome also typically has an autosomal dominant pattern of inheritance.Stickler syndrome types IV, V, ...

... the FBN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ... recessive Genetic Testing Registry: Ectopia lentis 1, isolated, autosomal dominant Isolated ectopia lentis National Organization for Rare Disorders ( ...

... patterns. Isolated coloboma is sometimes inherited in an autosomal dominant pattern, which means one copy of an altered ... inheritance pattern for that condition, which may be autosomal dominant, autosomal recessive, or X-linked. Congenital ocular coloboma ...

... yellow color vision defects are inherited in an autosomal dominant pattern, which means one copy of the altered ...

... In some cases, keratoconus is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person often ... in an autosomal recessive pattern, which means variants occur in both ...