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中文Microphthalmia, Syndromic 13 (MCOPS13)
Alias:
X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome
Colobomatous Microphthalmia with Microcephaly, Short Stature, and Psychomotor Retardation
Maine Microphthalmos
Mcops13
Syndromic Microphthalmia 13
X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome
Microphthalmia, Syndromic, Type 13
Microphthalmia, Syndromic, 13
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微小眼症13型，又名X连锁虹膜缺损性微小眼症-小头症-智力障碍-矮小症，与微小眼症1型和微小眼症有关。与微小眼症13型相关的基因是HMGB3（高迁移率组蛋白3）。相关组织包括眼睛和视网膜，相关表型为智力障碍和上睑下垂。
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MALACARDS
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