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Myopia "3," autosomal dominant
- ... 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 ...
- ... 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia. Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316- ...
- ... 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 ... ...
- Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
- ... V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan; ...
- ... 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 ...
(Genetic and Rare Diseases Information Center) 