Global Variome shared LOVD

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Phenotype #0000355070 Individual ID 00469925 Associated disease ? Diagnosis/Initial rickets Diagnosis/Definite VDDR1B Phenotype details see paper; ..., wrist widening; no pectus carinatum; no pigeon chest; no harisson sulcus; no rachitic rosary; no pot belly; no double malleoli; genu varum; no genu valgum; pes planus; osteopenia; no delayed carpal bone ossification; small epiphyses; frayed and/or irregular metaphyses; bowing lower limbs; Inheritance Familial, autosomal recessive Age/Examination 3y6m (3 years, 6 months) 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 2025-11-23 13:32:02 +01:00 (CET) Date last edited N/A

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