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Summary
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (XLHR)
HYPOPHOSPHATEMIA, X-LINKED XLH
307800
OMIM = Online Medalian Inheritance of Men
89936
Xp22.11
rare (1:20000)
X-linked dominant
mutation in the phosphate-regulating endopeptidase gene
symptoms
dental abnormalities
growth retardation, poor growth
hearing defect, deafness
limb abnormalities, limb deformities
onset, infancy
pain, bones or joints
rickets
short stature
laboratory finding
Phosphatase, alkaline U/lserum
Phosphate mmol/lserum
Parathyroid hormone (PTH) pmol/lserum
Literature
Backes JM,et al.Pseudohypertriglyceridemia: two cases of probable glycerol kinase deficiencyJ Clin Lipidol65469-4732012