SOX18

PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073, Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823, Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914
R-numbers: R236
Signed-off version 2.1
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 3.1
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