Global Variome shared LOVD

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

Phenotype #0000025662 Individual ID 00029630 Associated disease PHP1B Phenotype details diagnosed 17y: activity-induced fatigue, hyperphosphataemia, hypocalcaemia; 21y-bilateral cortical calcifications Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Deborah JG Mackay Database submission license No license selected Created by Deborah JG Mackay Date created 2014-04-08 18:03:36 +02:00 (CEST) Date last edited N/A

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