DeSanctis-Cacchione syndrome
名词 n.
英文释义
名词 n.
- A genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia, and quadriparesis.
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数据来源: Wiktionary