Global Variome shared LOVD

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Phenotype #0000242122 Individual ID 00319995 Associated disease MYOP Phenotype details nasal speech HP:0001611; exercise intolerance HP:0003546; Polycythemia HP:0001901; Bilateral ptosis HP:0001488; Epicanthus HP:0000286; Retrognathia HP:0000278; High palate HP:0000218; Facial diplegia HP:0001349; Myopathy, Congenital, With Fiber-type Disproportion OMIM:255310; Cap Myopathy ORPHA:171881; Exertional dyspnea HP:0002875 Diagnosis/Initial myopathy Inheritance Isolated (sporadic) Diagnosis/Definite TPM3 congenital myopathy Age/Examination 47y (47 years) Age/Diagnosis 47y Age/Onset - Phenotype/Onset nasal speech (HP:0001611); exercise intolerance (HP:0003546) Protein - Owner name JA Bevilacqua Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-23 13:39:17 +01:00 (CET) Date last edited N/A

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