Pitt-Hopkins syndrome

短语

别名

PTHS

释义与例句

n.
  1. 1.

    A rare genetic disorder characterized by developmental delay, moderate to severe intellectual disability, distinctive facial features, and possible intermittent hyperventilation followed by apnea.

    不可数

词源

First described in 1978 by D. Pitt and I. Hopkins, in unrelated patients.

来源：wiktionary