Global Variome shared LOVD

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Phenotype #0000357496 Individual ID 00472699 Associated disease MYOP Diagnosis/Initial congenital myopathy Diagnosis/Definite - Phenotype details see paper; ..., decreased fetal movement, polyhydramnios; birth respiratory failure requiring noninvasive ventilatory support; persistent respiratory failure, tracheostomy; gastrostomy placement for dysphagia; excessive drooling; developmentaldelay, 1y-sit, 3y-stand supported; 3y-limb/truncal/neck flexion weakness, myopathic facies, axia hypotonia, appendicular hypotonia, absent reflexes, ligamentous laxity, scoliosis, pectus carinatum, high-arched palate, bitemporal narrowing; scoliosis Inheritance Familial, autosomal recessive 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 2026-02-25 19:45:55 +01:00 (CET) Date last edited 2026-02-25 19:50:31 +01:00 (CET)

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