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
Created by	Johan den Dunnen