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Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13.33.
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Overview
A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13.33.
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