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 InternationalCreative Commons License
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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