Phenotype #0000050569

Individual ID 00064054
Associated disease MPXPS
Phenotype details muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; dystonia; no paroxysmal ataxia; no short stature; skin icthyosis, atopic dermatitis; microcephaly; optic atrophy; EMG myopathic; normal nerve conduction velocity; MRI brain normal; CPK 4800 IU/L; severe learning difficulties
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset motor delay
MotorSkills runs
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-12-22 16:17:12 +01:00 (CET)
Date last edited N/A

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