Pitt-Hopkins syndrome
名词 n.
英文释义
名词 n.
- A rare genetic disorder characterized by developmental delay, moderate to severe intellectual disability, distinctive facial features, and possible intermittent hyperventilation followed by apnea.
词源
First described in 1978 by D. Pitt and I. Hopkins, in unrelated patients.
0 次浏览
数据来源: Wiktionary