Global Variome shared LOVD

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Phenotype #0000355017 Individual ID 00469872 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite VDDR1A Phenotype details see paper; ..., height 68cm (SD−3), weight 6.38kg (SD−3), OFC 44cm (SD−2.5); wrist widening; pectus carinatum; pigeon chest; harisson sulcus; rachitic rosary; pot belly; double malleoli; genu varum; genu valgum; no pes planus; osteopenia; delayed carpal bone ossification; small epiphyses; frayed and/or irregular metaphyses; no bowing lower limbs; no bowing upper limbs; bronchopneumonia, bilateral lower limb hypotonia Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-20 12:33:13 +01:00 (CET) Date last edited 2025-11-23 13:15:05 +01:00 (CET)

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