Global Variome shared LOVD

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

Phenotype #0000050559 Individual ID 00064044 Associated disease MPXPS Phenotype details muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; ptosis; EMG?; nerve conduction velocity?; MRI brain?; CPK 1000-8900 IU/L; severe learning difficulties Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 8y Phenotype/Onset - MotorSkills climbs stair with support Protein - Owner name Marjolein Kriek Database submission license No license selected Created by Marjolein Kriek Date created 2013-03-01 15:49:21 +01:00 (CET) Date last edited 2013-06-06 13:59:15 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.