Results 1 -
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16
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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- ...
- Optic Nerve Disorders (National Library of Medicine)The optic nerve is a bundle of more than 1 million nerve fibers that carry visual messages. You have one connecting the back of each eye (your retina) to ...
- Eye Diseases (National Library of Medicine)Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include: Refractive errors Cataracts - ...
- ... syndrome. ACTB ACTG1 ... retardation Genetic Testing ...
- ... 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 ...
- ... 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 ...
- ... mutations in the CHD7 gene, it follows an autosomal dominant pattern of inheritance, which means one copy of ...
