Global Variome shared LOVD

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

Phenotype #0000050572 Individual ID 00064057 Associated disease MPXPS Phenotype details muscle weakness, proximal, early onset; currently ambulant with support; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG myopathic; nerve conduction velocity increased; MRI brain small cerebellum; CPK 1600 IU/L; mild learning difficulties Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 2y 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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