Global Variome shared LOVD

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Phenotype #0000351304 Individual ID 00465855 Associated disease ? Diagnosis/Initial Larsen syndrome Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth retadation; short stature (-5 SD); advanced bone age; joint dislocations hips, radial heads; hands bifid right thumb, broad left thumb, membranous syndactylies; cervical instability with C2–C3 fusion, severe hyperlaxity, knee osteoarthritis, scoliosis; glaucoma, hypercholesterolemia, recurrent venous thrombosis and pulmonary embolism (no thrombophilia); prominent eyes with proptosis, epicanthal folds, micrognathia; no intellectual disability Inheritance Familial, autosomal recessive 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 2025-06-07 14:19:00 +02:00 (CEST) Date last edited N/A

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