Global Variome shared LOVD

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Phenotype #0000254919 Individual ID 00359646 Associated disease skeletal dysplasia Diagnosis/Initial fetal skeletal dysplasia Diagnosis/Definite - Phenotype details 22w-fetus narrow thorax, short long bones, femur length 24 mm, humerus length 17.6 mm, short rib Inheritance Familial, autosomal recessive Age/Examination <0d 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 2021-04-03 16:29:11 +02:00 (CEST) Date last edited N/A

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