Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000332037 Individual ID 00442690 Associated disease NMD Diagnosis/Initial Congenital myopathy Diagnosis/Definite - Phenotype details Generalized muscle weakness: elongated face, facial weakness, high palate, nasal voice, ptosis, mildly reduced respiratory function (83%); muscle biopsy: increase in fiber size variation, increase in internal nuclei; CK within normal range Inheritance Familial, autosomal recessive Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 18:48:51 +01:00 (CET) Date last edited N/A

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