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Items: 2

1.

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015). [from OMIM]

MedGen UID:
1373459
Concept ID:
C4317151
Disease or Syndrome
2.

Hypotrichosis-lymphedema-telangiectasia syndrome

Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003). [from OMIM]

MedGen UID:
375070
Concept ID:
C1843004
Disease or Syndrome

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