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. 2021 Jul 15;16:314. doi: 10.1186/s13023-021-01955-6

Table 1.

General information

Total patients 27
Sex (%)
 Male 18 (66.7)
 Female 9 (33.3)
Age at transplant (median) 12 months (range: 4–107 months)
Gene (%)
 TCIRG1 compound heterozygous mutation 18 (66.7)
 CLCN7 compound heterozygous mutation 2 (7.4)
 CLCN7 heterozygous mutation 4 (14.8)
Visual impairment 26/27
Hearing impairment 5/27
Splenomegaly 23/27
Abnormal haemogram 27/27