Global Variome shared LOVD

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

Phenotype #0000053391 Individual ID 00073658 Associated disease LGMD Phenotype details Seizures (HP:0001250), Elevated hepatic transaminases (HP:0002910), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination <19y (before 19 years) Age/Diagnosis 19y Age/Onset 10y Phenotype/Onset Elevated serum creatine phosphokinase (HP:0003236) Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-17 09:56:14 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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