Phenotype #0000050560

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00064045
Associated disease	MPXPS
Phenotype details	muscle weakness, proximal, early onset; currently ambulant; no chorea; dystonia; no paroxysmal ataxia; no short stature; skin vitiligo; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 5000 IU/L; severe learning difficulties
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	motor delay; speech delay
MotorSkills	climbs stair with support
Protein	-
Owner name	Marjolein Kriek
Database submission license	No license selected
Created by	Marjolein Kriek
Date created	2013-05-21 21:46:20 +02:00 (CEST)
Date last edited	2013-06-06 13:59:56 +02:00 (CEST)