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20
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"Coloboma," "ocular," autosomal dominant
- ... families, coloboma can have different inheritance patterns. Isolated coloboma is sometimes inherited in an autosomal dominant pattern, which means one copy of an altered ...
- ... unclear.Approximately half of those affected with renal coloboma syndrome do not have an identified variant in the PAX2 gene. In these cases, the cause of the disorder is unknown. PAX2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition ACT ACTG ACTG_HUMAN actin, cytoplasmic 2 actin, gamma 1 actin-like protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma- ...
- Eye Diseases (National Library of Medicine)What diseases can affect the eye? Even if your eyes feel healthy, you could have a problem and not know it. That's why regular eye exams are so important. ...
- ... syndrome. ACTB ACTG1 ... retardation Genetic Testing ...
- ... Anophthalmia and microphthalmia can be inherited in an autosomal dominant pattern, which means one copy of the altered ... and OTX2 genes are typically inherited in an autosomal dominant pattern. Anophthalmia and microphthalmia can also be inherited ...
- ... in the SF3B4 gene, Nager syndrome follows an autosomal dominant inheritance pattern, which means one copy of the ... person inherits the mutation from one affected parent. Autosomal dominant Nager syndrome may also be caused by mutations ...
- ... TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered ... the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits ...
- ... B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J ... Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle ...
- ... families. When inherited, CAKUT most commonly follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause an abnormality. However, some people ... follows an autosomal recessive pattern, which means both copies of the ...
