Global Variome shared LOVD

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Phenotype #0000358557 Individual ID 00473762 Associated disease MYOP Diagnosis/Initial metabolic myopathy Diagnosis/Definite - Phenotype details Hypotonia; Developmental delay; Muscular weakness, particularly in forearm, arm, shoulder girdle and leg; Difficulty rising from seated position and climbing steps; Thin built & finger; Low nasal bridge; Large mouth; Hyperlordosis; Hypopigmentation of skin; Calf pseudohypertrophy; EMG-NCV: dystrophic myopathic process involving all limbs; Elevated level of serum CK Inheritance Familial, autosomal dominant Age/Examination 11y (11 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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