Global Variome shared LOVD

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Phenotype #0000351272 Individual ID 00465825 Associated disease ? Diagnosis/Initial joint laxity Diagnosis/Definite GO Phenotype details see paper; ..., Skin and joint laxity, bilateral congenital dislocation hip and flat feet, significant osteopenia, hypotonia, dysmorphic features (progeroid face with decreased infraorbital fatty tissue, beaked nose, short philtrum) 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 12:17:17 +02:00 (CEST) Date last edited N/A

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