SOX18

PanelMode of inheritanceDetails
3 panels
R-numbers: R236
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, Hypotrichosis-lymphedema-telangiectasia syndrome, HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, HLTRS
R-numbers: R136
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypotrichosis-lymphedema-telangiectasia syndrome, 607823, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
R-numbers: R326
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypotrichosis-lymphedema-telangiectasia syndrome