Phenotype #0000050562

Individual ID 00064047
Associated disease MPXPS
Phenotype details muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; paroxysmal ataxia; no short stature; normal skin; no microcephaly; hypermetropia; EMG?; nerve conduction velocity?; MRI brain normal; CPK 2000-4000 IU/L; mild learning difficulties
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 11m
Phenotype/Onset motor delay; proximal weakness
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 21:46:21 +02:00 (CEST)
Date last edited N/A

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