Global Variome shared LOVD

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

Phenotype #0000172866 Individual ID 00229642 Associated disease CMYO4A;CFTD Phenotype details Mild proximal weakness, myopathic face, high arched palate, scapula winging Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis 04y Age/Onset 01y? Phenotype/Onset 1y? Protein - Owner name Cristiane Moreno Database submission license No license selected Created by Cristiane Moreno Date created 2019-04-05 19:55:13 +02:00 (CEST) Date last edited 2019-04-09 07:50:25 +02:00 (CEST)

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