Global Variome shared LOVD

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Phenotype #0000350618 Individual ID 00464627 Associated disease MRD63 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Neurodevelopmental delay, Motor delay, Delayed speech and language development, Short stature, Decreased body weight, Hypotonia, Lower limb muscle weakness, Abnormality of mitochondrial metabolism, Supernumerary tooth, Abnormality of the digestive system Inheritance Unknown Age/Examination 06y (6 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 2025-04-04 10:55:41 +02:00 (CEST) Date last edited 2025-04-07 10:38:47 +02:00 (CEST)

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