Global Variome shared LOVD

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Phenotype #0000357251 Individual ID 00472441 Associated disease IDDHISD Diagnosis/Initial - Diagnosis/Definite - Phenotype details Motor delay, Axial hypotonia, Delayed speech and language development, normal circulating CK Inheritance Isolated (sporadic) Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2026-02-16 13:31:40 +01:00 (CET) Date last edited 2026-02-17 15:44:35 +01:00 (CET)

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