Phenotype #0000123854

Individual ID 00151484
Associated disease LGMD
Phenotype details contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, MRI normal, congenital hip dislocation, increased weakness with fever; no microcephaly, no eye involvement; CPK level 5700; no intellectual disability (-HP:0001249); able to run
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2M
Age/Examination -
Age/Diagnosis -
Age/Onset 9m
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen