Phenotype #0000058594

Individual ID 00078835
Associated disease LGMD2L;LGMDR12
Phenotype details muscle pain, axial weakness; raised CPK (HP:0003236) 1200-2200; >64y walking (-HP:0006957)
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 45y
Phenotype/Onset thigh weakness/wasting
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen