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GENATLAS PHENOTYPE
last update : 10-05-2016
Symbol NHPT1
Location 15q21.1
Name Neonatal Primary Hyperparathyroidism 1
Corresponding gene SLC12A1
Main clinical features
  • mild neonatal primary hyperparathyroidism and hypercalciuria
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/phosphocalcique
    Type disease
    Remark(s)