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中文Congenital Disorder of Glycosylation, Type Iq (CDG1Q)
Alias:
Cdg1q
Congenital Disorder of Glycosylation Type Iq
Congenital Disorder of Glycosylation 1q
Srd5a3-Cdg
Cdg Iq
Cdg-Iq
Cdgiq
Coloboma, Ocular, with Ichthyosis, Brain Malformations, and Endocrine Abnormalities
Coloboma, Ocular, and Ichthyosis, Brain Malformations, and Endocrine Abnormalities
Ocular Coloboma Ichthyosis Brain Malformations and Endocrine Abnormalities
Glycosylation, Congenital Disorder of, Type Iq
Congenital Disorder of Glycosylation Type 1q
Srd5a3-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Iq
Cdg Syndrome Type Iq
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先天性糖基化障碍，类型Iq，也称为cdg1q，与卡赫里综合征和Srd5a3-先天性糖基化障碍有关。与先天性糖基化障碍，类型Iq有关的重要基因是SRD5A3（类固醇5α还原酶3）。附属组织包括皮肤和大脑，相关表型为智力障碍和全球发育延迟。
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MALACARDS
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MGI
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