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Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Disease Export to PDF
Name:
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Description:
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
ORPHAcode:
69735
Synonyms:
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
XREF(s):
Orphanet
OMIM
OMIM
ICD-10
Analyte(s):
SOX18
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14