organism: Homo sapiens
attributes.tag: isolate
attributes.value: hemizygous pathogenic variant in the CLCN5 gene of the X chromosome, and the pathogenic variant of the 1942nd base C was T, c.1942 C>T (exmo11, NM_000084)
attributes.tag: age
attributes.value: 6-year-old
attributes.tag: biomaterial_provider
attributes.value: not collected
attributes.tag: collection_date
attributes.value: not collected
attributes.tag: geo_loc_name
attributes.value: China
attributes.tag: sex
attributes.value: male
attributes.tag: tissue
attributes.value: peripheral blood
attributes.tag: BioSampleModel
attributes.value: Human