Global Variome shared LOVD

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Phenotype #0000347882 Individual ID 00460157 Associated disease MOPD Diagnosis/Initial microcephalic osteodysplastic primordial dwarfism Diagnosis/Definite MOPD2 Phenotype details see paper; ..., IUGR, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia; skin anomalies Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-18 14:51:51 +01:00 (CET) Date last edited N/A

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