131100.2 | United Arab Emirates | Male | Yes | Yes | Primary hyperparathyroidism; Increased c... | NM_000500.9:c.(1-?)_(1488+?)del | Heterozygous, Homozygous | Autosomal, Dominant | Chen Cardenas et al. 2020 | |
201910.1.1 | Egypt | Female | Yes | Yes | Ambiguous genitalia; Congenital adrenal... | NM_001128590.3:c.428T>A | Homozygous | Autosomal, Recessive | Gad, 2002 | |
201910.2.1 | Egypt | Male | | Yes | Congenital adrenal hyperplasia; Renal s... | NM_001128590.3:c.428T>A | Homozygous | Autosomal, Recessive | Gad, 2002 | |
201910.3 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Renal... | NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>G | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygot... |
201910.4 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Renal s... | NM_001128590.3:c.865C>T, NM_001128590.3:c.979C>T | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygot... |
201910.5 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Renal ... | NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>G, NM_001128590.3:c.92C>T | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygot... |
201910.6 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Renal ... | NM_001128590.3:c.865C>T | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygot... |
201910.7 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Renal... | NM_001128590.3:c.203-13C>G | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygot... |
201910.8 | Tunisia | Female | | Yes | Congenital adrenal hyperplasia; Renal ... | NM_001128590.3:c.979C>T | Homozygous | Autosomal, Recessive | Kharrat et al. 2004 | |
201910.9 | Tunisia | Male | | Yes | Congenital adrenal hyperplasia; Rena... | NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Kharrat et al. 2004 | |
201910.10 | Tunisia | Female | | Yes | Congenital adrenal hyperplasia; Renal... | NM_032470.3:c.*253G>A | Homozygous | Autosomal, Recessive | Kharrat et al. 2004 | |
201910.11 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Renal... | NM_001128590.3:c.865C>T | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygou... |
201910.12 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Ren... | NM_001128590.3:c.59G>A | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygou... |
201910.13 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Rena... | NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>G | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygot... |
201910.14 | Tunisia | Female | | | Congenital adrenal hyperplasia; Ren... | NM_001128590.3:c.428T>A, NM_001128590.3:c.865C>T | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | Compound heterozygot... |
201910.15.1 | Lebanon | Female | Yes | Yes | Congenital adrenal hyperplasia; Renal s... | NM_001128590.3:c.865C>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.15.2 | Lebanon | Male | Yes | Yes | Congenital adrenal hyperplasia; Renal... | NM_001128590.3:c.865C>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | Sibling of 201910.15... |
201910.16 | Palestine | Female | No | Yes | Congenital adrenal hyperplasia; Rena... | NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>G | Heterozygous | Autosomal, Recessive | Delague et al, 2000 | Compound heterozygot... |
201910.17 | Lebanon | Female | | No | Congenital adrenal hyperplasia; Rena... | NM_001128590.3:c.203-13C>G, NM_001128590.3:c.242_249delGAGACTAC | Heterozygous | Autosomal, Recessive | Delague et al, 2000 | Compound heterozygot... |
201910.18 | Lebanon | Female | | Yes | Congenital adrenal hyperplasia; Ren... | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.19.1 | Lebanon | Male | Yes | Yes | Congenital adrenal hyperplasia; Re... | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.19.2 | Lebanon | Female | Yes | Yes | Congenital adrenal hyperplasia; R... | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Delague et al, 2000 | Sister of 201910.19.... |
201910.20.1 | Lebanon | Female | Yes | Yes | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>T | Heterozygous, Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.20.2 | Lebanon | Male | Yes | Yes | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>T | Heterozygous, Homozygous | Autosomal, Recessive | Delague et al, 2000 | Brother of 201910.20... |
201910.21 | Lebanon | Female | | No | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.428T>A, NM_001128590.3:c.865C>T, NM_001128590.3:c.629T>A, NM_001128590.3:c.620T>A, NM_001128590.3:c.623T>A | Heterozygous | Autosomal, Recessive | Delague et al, 2000 | Carries the CL6 hapl... |
201910.22.1 | Lebanon | Male | Yes | Yes | Congenital adrenal hyperplasia; Re... | NM_001128590.3:c.242_249delGAGACTAC | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.22.2 | Lebanon | Female | Yes | Yes | Congenital adrenal hyperplasia; R... | NM_001128590.3:c.242_249delGAGACTAC | Homozygous | Autosomal, Recessive | Delague et al, 2000 | Sister of 201910.22.... |
201910.23.1 | Lebanon | Female | Yes | Yes | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.23.2 | Lebanon | Female | Yes | Yes | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | Sister of 201910.23.... |
201910.23.3 | Lebanon | Female | Yes | Yes | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | Sister of 201910.23.... |
201910.24 | Lebanon | Female | | No | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.25 | Lebanon | Male | | | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.428T>A, NM_001128590.3:c.629T>A, NM_001128590.3:c.620T>A, NM_001128590.3:c.623T>A | Homozygous | Autosomal, Recessive | Delague et al, 2000 | Carries the CL6 hapl... |
201910.26 | Lebanon | Male | | No | Congenital adrenal hyperplasia; Renal s... | NM_001128590.3:c.203-13C>G | Heterozygous | Autosomal, Recessive | Delague et al, 2000 | Compound heterozygou... |
201910.27 | Lebanon | Male | | No | Congenital adrenal hyperplasia; Renal ... | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.28.1 | Lebanon | Female | Yes | Yes | Congenital adrenal hyperplasia; Ambiguo... | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.28.2 | Lebanon | Male | Yes | Yes | Congenital adrenal hyperplasia; | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Delague et al, 2000 | Sibling of 201910.28... |
201910.29 | Lebanon | Female | | No | Congenital adrenal hyperplasia; ; Ambig... | NM_001128590.3:c.428T>A | Heterozygous | Autosomal, Recessive | Delague et al, 2000 | Compound heterozygou... |
201910.30 | Lebanon | Female | | No | Congenital adrenal hyperplasia; Ambiguo... | NM_001128590.3:c.428T>A, NM_001128590.3:c.629T>A, NM_001128590.3:c.620T>A, NM_001128590.3:c.623T>A | Heterozygous, Homozygous | Autosomal, Recessive | Delague et al, 2000 | Carries the CL6 hapl... |
201910.31.1 | Lebanon | Female | Yes | No | Congenital adrenal hyperplasia; Ambiguo... | NM_001128590.3:c.242_249delGAGACTAC | Heterozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.31.2 | Lebanon | Female | Yes | No | Congenital adrenal hyperplasia; Ambigu... | NM_001128590.3:c.242_249delGAGACTAC | Heterozygous | Autosomal, Recessive | Delague et al, 2000 | Sibling of 201910.31... |
201910.32 | Lebanon | Male | | No | Congenital adrenal hyperplasia; ; ; ... | NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.33 | Lebanon | Female | | | Congenital adrenal hyperplasia; ; ... | NM_001128590.3:c.754G>T | Heterozygous | Autosomal, Recessive | Delague et al, 2000 | Compound heterozygot... |
201910.34 | Lebanon | Male | | No | Congenital adrenal hyperplasia; ; ... | NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.35.3 | Lebanon | Female | | Yes | Congenital adrenal hyperplasia; ;... | NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.36 | Lebanon | Female | | No | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.37 | Lebanon | Female | | No | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.38 | Lebanon | Female | | No | Congenital adrenal hyperplasia; ... | NM_001128590.3:c.754G>T | Homozygous | Autosomal, Recessive | Delague et al, 2000 | |
201910.G.1 | Tunisia | Female | | Yes | Congenital adrenal hyperplasia; Renal ... | NM_001128590.3:c.865C>T | Homozygous | Autosomal, Recessive | Kharrat et al. 2004 | 7 unrelated patients |
201910.G.2 | Tunisia | Male | | Yes | Congenital adrenal hyperplasia; Renal... | NM_001128590.3:c.865C>T | Homozygous | Autosomal, Recessive | Kharrat et al. 2004 | 3 unrelated patients |
201910.G.3 | Tunisia | Female | | No | Congenital adrenal hyperplasia; Renal... | NM_001128590.3:c.865C>T | Homozygous | Autosomal, Recessive | Kharrat et al. 2004 | 3 unrelated patients |
201910.G.4 | Tunisia | Female | | Yes | Congenital adrenal hyperplasia; Renal... | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Kharrat et al. 2004 | 5 unrelated patients... |
201910.G.5 | Tunisia | Male | | Yes | Congenital adrenal hyperplasia; Rena... | NM_001128590.3:c.203-13C>G | Homozygous | Autosomal, Recessive | Kharrat et al. 2004 | 2 unrelated patients... |
201910.G.6 | Tunisia | Female | | | Congenital adrenal hyperplasia; Ren... | NM_001128590.3:c.865C>T | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | 3 unrelated patients... |
201910.G.7 | Tunisia | Female | | Yes | Congenital adrenal hyperplasia; R... | NM_001128590.3:c.428T>A | Heterozygous | Autosomal, Recessive | Kharrat et al. 2004 | 5 unrelated patients |