Global Variome shared LOVD

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Phenotype #0000355072 Individual ID 00469927 Associated disease ? Diagnosis/Initial rickets Diagnosis/Definite FBS Phenotype details see paper; ..., height 80cm (SD−9.6), weight 11.3kg (SD−3.675), OFC 45.5cm (SD−3); wrist widening; no pectus carinatum; no pigeon chest; no harisson sulcus; no rachitic rosary; no pot belly; no double malleoli; no genu varum; genu valgum; osteopenia; no delayed carpal bone ossification; no small epiphyses; frayed and/or irregular metaphyses; no bowing lower limbs; bowing upper limbs; mild blue sclearae, sparse eyebrows, multiple sites of fracture Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) 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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