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Table 1 Clinical features of individuals of participating families ZFD-01 and ZFD-02

From: RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature

Family ID Variant Zygosity Sex Age (years) Height (cm) Height Standard Deviation Head Circumfer-ence (cm) Head circumfer-ence Standard deviation Genu valgum
ZFD-01 III:1 PCNT
c.6176_6189del GTCAGCTGCCGAAG
Heterozygous F 45 155 -1.2 NA NA -
III:2 Heterozygous M 54 161 -2.1 NA NA -
IV:1 Homozygous M 27 117 -8.2 45 -6.8 -
IV:3 Homozygous M 20 123 -7.3 47 -5.4 -
IV:5 Wild type F 12 155 0.6 54  + 0.7 -
ZFD-02 III:2 RAB33B
c.174delC
Heterozygous F 49 150 -2.0 NA NA -
III:3 Heterozygous M 54 160 -0.4 NA NA -
III:4 Heterozygous F 45 150 -1.9 NA NA -
IV:1 Heterozygous M 35 159 -2.4 NA NA -
IV:2 Homozygous F 33 112 -7.2 49 -5.0  + 
IV:3 Homozygous F 29 117 -6.5 53 -1.2  + 
IV:8 Homozygous F 22 122 -5.7 51 -3.1 -
IV:10 Heterozygous M 7 122 0 54  + 1.4 -
IV:11 Homozygous M 10 104 -4.9 48 -3.7  + 
IV:12 Wild type F 13 143.5 -1.8 58  + 3.4 -