Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
微小头症、侏儒症、釉质发育不全和糖尿病的丙氨酸尿症(来自翻译大模型)
别称:
Stimmler Syndrome
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus, also known as Stimmmer syndrome, is a rare genetic disorder characterized by the presence of alaninuria, microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus. Other related phenotypes include ataxia and type II diabetes mellitus.
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Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus, is also known as stimmler syndrome. Related phenotypes are ataxia and type ii diabetes mellitus