vitalwiki

中枢神经系统钙化-耳聋-肾小管酸中毒-贫血综合征

ORPHA:3240· ICD-10 G93.8· Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

患病率
<1 / 1 000 000
遗传方式
Autosomal recessive
发病年龄
No data available