Global Variome shared LOVD

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

Phenotype #0000050561 Individual ID 00064046 Associated disease MPXPS Phenotype details muscle weakness, proximal, early onset; currently ambulant with support; no chorea; no dystonia; paroxysmal ataxia; short stature; skin atopic dermatitis; no microcephaly; astigmatism, hypermetropia; EMG?; nerve conduction velocity?; MRI brain linear calcification frontal lobe; CPK 800-9000 IU/L; mild learning difficulties Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 28m Phenotype/Onset proximal weakness MotorSkills runs Protein - Owner name Marjolein Kriek Database submission license No license selected Created by Marjolein Kriek Date created 2013-05-21 21:46:21 +02:00 (CEST) Date last edited 2013-06-05 10:55:44 +02:00 (CEST)

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