Global Variome shared LOVD

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Phenotype #0000355043 Individual ID 00469898 Associated disease skeletal dysplasia Diagnosis/Initial short stature Diagnosis/Definite SEDCJD Phenotype details see paper; ..., short stature, height 47.9cm (SD-4.9); 4m-hypothyroidism; 5m-jerky nystagmus; height 82.6cm (SD-6.0); facial dysmorphism (midfacial hypoplasia, depressed nasal root, prognathism, epicanthal folds); no cognitive impairment; hypothyroidism; nystagmus; hypospadias; airway narrowing (glottic narrowing, diffuse tracheal narrowing) Inheritance Familial, autosomal recessive Age/Examination 5y7m (5 years, 7 months) Age/Diagnosis - Age/Onset 2m 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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