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Myopia "2," autosomal dominant
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 MYOPIA 1, X-LINKED; MYP1 MYOPIA 13, X-LINKED; ...
- ... syndrome 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 ...
- ... for Rare Disorders (NORD) ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2 PubMed Chandra A, Aragon- ...
- ... ophthalmopathy Stickler dysplasia ... Stickler syndrome type 2 Genetic Testing Registry: Stickler syndrome, type 4 Genetic ...
- ... related 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 ...
- ... COL2A1 gene. Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. doi: 10.1016/s0039-6257(02)00460-5. Citation on PubMed Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation ...
- ... J Med Genet A. 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. Citation on ... in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan; ...
- ... Because it is unlikely that females will have two altered copies of a particular gene, ... Congenital ocular coloboma ...
- ... frequently than females because in females (who have two X chromosomes), a ... 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 ... LIS3 Lissencephaly 2 Lissencephaly 3 Lissencephaly syndrome, Norman-Roberts type Norman- ...