Phenotype #0000050573

Individual ID 00064058
Associated disease MPXPS
Phenotype details muscle weakness, proximal, early onset; currently ambulant; chorea; dystonia; no paroxysmal ataxia; short stature; normal skin; no microcephaly; ptosis; EMG normal; normal nerve conduction velocity; MRI brain signal change in globus pallidus; CPK 5000-8000 IU/L; severe learning difficulties
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 5y
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 16:17:13 +01:00 (CET)
Date last edited N/A

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