Global Variome shared LOVD

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

Phenotype #0000119203 Individual ID 00146462 Associated disease MYOP Phenotype details congenital autophagic vacuolar myopathy; see paper; ..., 5/7 died soon after birth due to inability to breathe and suckle Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - 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 2017-12-28 19:01:24 +01:00 (CET) Date last edited N/A

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