Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000227645 Individual ID 00300338 Associated disease OI Phenotype details 13w-pregancy terminated; fractures at birth, multiple pretal fractures; angulated long bones; under-mineralized skull Diagnosis/Initial severe kyphomelic dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination <0d 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 2020-05-01 12:31:01 +02:00 (CEST) Date last edited N/A

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