Global Variome shared LOVD

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Phenotype #0000278742 Individual ID 00384960 Associated disease ? Diagnosis/Initial femoral hypoplasia Diagnosis/Definite - Phenotype details isolated bilateral congenital lower limb malformation, extremely short and hypoplastic femoral bones, moderate hypoplasia pelvic bone structures, normal psychomotor development, no other associated abnormalities Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-10-05 19:05:00 +02:00 (CEST) Date last edited N/A

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