Global Variome shared LOVD

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Phenotype #0000349781 Individual ID 00462281 Associated disease ? Diagnosis/Initial congenital sclerosing osteomalacia, cerebral calcification Diagnosis/Definite RNS Phenotype details see paper; ..., congenital sclerosing osteomalacia with cerebral calcification (MIM 259660); Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - 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 2025-02-07 13:36:02 +01:00 (CET) Date last edited N/A

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