Global Variome shared LOVD

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Phenotype #0000073386 Individual ID 00094998 Associated disease PYKNODYSOSTOSIS Phenotype details see paper; ..., skeletal dysplasia, pycnodysostosis, normal birth height/weight; 7y-normal psychomotor development Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2017-01-05 15:36:34 +01:00 (CET) Date last edited N/A

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