Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000050568 Individual ID 00064053 Associated disease MPXPS Phenotype details muscle weakness, proximal, early onset; currently climbing stairs with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin icthyosis; no microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 6000-12500 IU/L; severe learning difficulties Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 3y Phenotype/Onset motor delay; speech delay MotorSkills runs Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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