Phenotype #0000050570

Individual ID 00064055
Associated disease MPXPS
Phenotype details muscle weakness, proximal, early onset; currently climbing stairs with support; chorea; dystonia; no paroxysmal ataxia; short stature; skin icthyosis; microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2900-4200 IU/L; severe learning difficulties
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset motor delay; speech delay; proximal weakness
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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