Global Variome shared LOVD

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

Phenotype #0000052842 Individual ID 00073172 Associated disease ? Diagnosis/Initial dysferlinopathy Diagnosis/Definite - Phenotype details Difficulty to rise from floor (HP:0004302), Limb-girdle muscular dystrophy (HP:0006785), Muscle weakness (HP:0001324), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) Inheritance Familial, autosomal recessive Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset 35y Phenotype/Onset Difficulty to rise from floor (HP:0004302) Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-09 12:42:54 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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