Global Variome shared LOVD

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Phenotype #0000355046 Individual ID 00469901 Associated disease skeletal dysplasia Diagnosis/Initial short stature Diagnosis/Definite SEDCJD Phenotype details see paper; ..., short stature, height 74cm (SD-4.5); height 98.8cm (SD-3.4); facial dysmorphism; no cognitive impairment; hypothyroidism; <5y-recurrent pneumonia; precocious puberty Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 2y7m Phenotype/Onset short stature 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 19:27:00 +01:00 (CET) Date last edited N/A

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