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.
12 次浏览
数据来源: Wiktionary