Global Variome shared LOVD

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Phenotype #0000354953 Individual ID 00469808 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite SEMDSP Phenotype details see paper; ..., short stature, bilateral windswept deformity., height 93cm (SD-10); height 93cm (SD-10); facial dysmorphism (hypertelorism, flat nasal bridge, bilateral low set posteriorly rotated pinna, anteverted nares, bulbous nose); no cognitive impairment; brachydactyly, hyper elasticity fingers/toes, joint laxity Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 11y Phenotype/Onset short stature, limb deformity Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-20 12:33:13 +01:00 (CET) Date last edited 2025-11-20 18:47:32 +01:00 (CET)

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