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Nevo syndrome

Epidemiology: rare Genetics: - autosomal recessive - associated with defects in PLOD1 (lysyl hydroxylase 1) Clinical manifestations: - increased perinatal length - kyphosis - muscular hypotonia - joint laxity - Nevo syndrome & Ehlers-Danlos syndrome type 6 have similar clinical phenotypes & may be same clinical entity

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 601451

References

  1. UniProt :accession Q02809
  2. OMIM :accession 601451