... 3 OPA3 OPA3, autosomal dominant Optic atrophy and cataract, autosomal dominant Optic atrophy type 3 Optic atrophy, cataract, and ...

... ADVIRC Vitreoretinochoroidopathy dominant Vitreoretinochoroidopathy with microcornea, glaucoma, and cataract Vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos Genetic Testing Registry: Autosomal dominant vitreoretinochoroidopathy ...

... the OPA3 gene have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly worsening vision in both ... problems.Mutations in the OPA3 gene that cause autosomal dominant optic atrophy and cataract occur in one copy of the gene in ...

... to the condition, including slightly short stature, myopia, cataracts, joint pain, and hearing loss.In at least one case of fibrochondrogenesis caused by a COL11A2 gene mutation, the condition was inherited in an autosomal dominant pattern, which means one copy of the altered ...

... joints; clouding of the lenses of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than autosomal dominant.Most ALDH18A1 gene variants involved in cutis laxa ...

... formed. FTL ... syndrome HHCS Genetic Testing Registry: ...

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood ...

... weaken. COL4A1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... each cell is sufficient to cause the disorder. Autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures HANAC HANAC ...

... condition. MYH9 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... no history of the disorder in their family. Autosomal dominant MYH9 spectrum disorders MYH9-related macrothrombocytopenias MYH9RD Genetic ...

... CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered ... are described as sporadic and are not inherited. Autosomal dominant cerebrovascular amyloidosis CAA, familial Cerebral amyloid angiopathy, familial ...