Hoyeraal-Hriedarsson综合征

ORPHA:3322· ICD-10 Q82.8· Hoyeraal-Hreidarsson syndrome

患病率: <1 / 1 000 000
遗传方式: Autosomal dominant, Autosomal recessive, X-linked recessive
发病年龄: Infancy, Neonatal