Global Variome shared LOVD

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Phenotype #0000323091 Individual ID 00432532 Associated disease PHMDS Phenotype details Developmental regression, Intellectual disability, moderate, Abnormal muscle tone Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 16y (16 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 2023-02-24 10:26:14 +01:00 (CET) Date last edited 2023-02-26 09:14:28 +01:00 (CET)

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