Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000043008 Individual ID 00056394 Associated disease RTADR Phenotype details no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.10, serum HCO3- 5.5mM, serum K+ 2.4mM, urine pH 8.0 Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 4y6m (4 years, 6 months) Age/Diagnosis 21d Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-12-18 08:17:51 +01:00 (CET) Date last edited N/A

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