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视神经萎缩-共济失调-周围神经病变-全身发育迟缓综合征

ORPHA:543470· ICD-10 E88.8· Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

患病率
<1 / 1 000 000
遗传方式
Autosomal recessive
发病年龄
Adolescent, Childhood, Infancy