Global Variome shared LOVD

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

Phenotype #0000288305 Individual ID 00395105 Associated disease ? Diagnosis/Initial hypophosphatemic rickets Diagnosis/Definite - Phenotype details severe bowing of legs and genua valga; cupping and fraying of radial, ulnar, femoral and tibial metaphyses, bowing of femoral diaphysis Inheritance Familial, X-linked dominant Age/Examination - Age/Diagnosis 4y7m Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-03 14:10:54 +01:00 (CET) Date last edited N/A

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