Global Variome shared LOVD

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Phenotype #0000354925 Individual ID 00469780 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite SEMDJL3 Phenotype details see paper; ..., jaundice; difficulty walking, inability to squat; delay gross motor skills Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - 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 14:55:47 +01:00 (CET)

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