Global Variome shared LOVD

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Phenotype #0000352233 Individual ID 00466869 Associated disease MYOP Phenotype details see paper; ..., normal motor development, normal intellectual development, no clinical manifestations, normal neurological examination, normal liver function, normal muscle enzyme profiles Diagnosis/Initial asymptomatic Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) 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 2025-09-26 12:14:16 +02:00 (CEST) Date last edited 2025-09-26 13:19:05 +02:00 (CEST)

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