Phenotype #0000050572

Individual ID	00064057
Associated disease	MPXPS
Phenotype details	muscle weakness, proximal, early onset; currently ambulant with support; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG myopathic; nerve conduction velocity increased; MRI brain small cerebellum; CPK 1600 IU/L; mild learning difficulties
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	motor delay; speech delay
MotorSkills	runs
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2013-12-22 16:17:12 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD