Phenotype #0000050559

Individual ID 00064044
Associated disease MPXPS
Phenotype details muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; ptosis; EMG?; nerve conduction velocity?; MRI brain?; CPK 1000-8900 IU/L; severe learning difficulties
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset -
MotorSkills climbs stair with support
Protein -
Owner name Marjolein Kriek
Database submission license No license selected
Created by Marjolein Kriek
Date created 2013-03-01 15:49:21 +01:00 (CET)
Date last edited 2013-06-06 13:59:15 +02:00 (CEST)

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