Global Variome shared LOVD

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Phenotype #0000357477 Individual ID 00472680 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details see paper; ..., bell-shaped chest, reduced foetal movements; birth at term, weak, hypotonic, weak cry, finger contractures, feeding support in neonatal intensive care unit; 3m-tube feeding, home suction machine; dislocated hips (9m-surgery); 1y-gastrostomy inserted; 4m-head control, 12m-sit, 22m-walk; normal speech, no intellectual disability, no hearing loss, normal vision Inheritance Familial, autosomal recessive Age/Examination 13y06m (13 years, 6 months) 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 2026-02-25 14:22:45 +01:00 (CET) Date last edited N/A

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