Global Variome shared LOVD

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Phenotype #0000343212 Individual ID 00454565 Associated disease SGS Phenotype details Hypotonia, Mild global developmental delay, Pectus excavatum, Scapular winging, Atrial septal defect, Mildly elevated creatine kinase, Oligohydramnios Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-09-16 14:18:20 +02:00 (CEST) Date last edited 2024-09-18 09:54:16 +02:00 (CEST)

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