Global Variome shared LOVD

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

Phenotype #0000058658 Individual ID 00078902 Associated disease MYOP Phenotype details myopathy, congenital; worsening exercise intolerance; weakness mild distal only in UE, mild diffuse weakness in LE; no eye muscle involvement, no respiratory involvement, no cardiac involvement; mild cognitive difficulties; mild MR; normal CPK (-HP:0003236) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset poor athletic skills, frequent falls Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-09-07 15:20:17 +02:00 (CEST) Date last edited 2012-09-07 15:32:15 +02:00 (CEST)

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