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hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | RareConnect | RareConnect.io

/hypotrichosis-lymphedema-telangiectasia syndrome (grouping)

/lymphatic malformation

/hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Rare Disease

MONDO:0019073

Also Known As

hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndromehypotrichosis-lymphedema-telangiectasia-renal defect syndromeHLTRSglomerulonephritis with sparse hair and telangiectasestelangiectatic membranoproliferative glomerulonephritis

Patient-Friendly Information

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:137940 ↗

GARD

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microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

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MONDO:0007921

lymphedema-distichiasis syndrome

MONDO:0007922

campomelia, Cumming type

MONDO:0008896

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