Homo sapiens
isolate
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)
age
12+3 weeks
biomaterial_provider
not collected
collection_date
not collected
geo_loc_name
China
sex
male
tissue
Amniotic fluid cells
BioSampleModel
Human