Global Variome shared LOVD

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

Phenotype #0000125167 Individual ID 00102361 Associated disease MDC Phenotype details Muscular hypotonia (HP:0001252), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Neuromuscular dysphagia (HP:0002068) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein muscle, IHC for LAMA2, deficiency Owner name Tom Winder Database submission license No license selected Created by Tom Winder Date created 2008-08-14 15:35:25 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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