释义 |
Santavuori-Haltia disease Santavuori-Haltia disease (săn′tă-voo″ŏ-rē-hăl′tē-ă dĭ-zēz′), CLN1An aggressive neuronal ceroid lipofuscinosis, with onset between 6 and 18 months, and marked by microcephaly, myoclonic jerking, seizures, and death, usually before the age of 5. |