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phosphohydroxylysinuria

Genetics: - associated with mutations in PHYKPL Clinical manifestations: - no clinical phenotype associated with this abnormality Laboratory: - elevated phosphohydroxylysine in urine

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 615011

References

  1. OMIM :accession 615011
  2. UniProt :accession Q8IUZ5