Global Variome shared LOVD

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

Phenotype #0000053568 Individual ID 00073754 Associated disease LGMDR2;LGMD2B Phenotype details Difficulty climbing stairs (HP:0003551), Waddling gait (HP:0002515), Pelvic girdle muscle weakness (HP:0003749), Muscular dystrophy (HP:0003560), Absent muscle fiber dysferlin (HP:0030114) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 38y Age/Onset 32y Phenotype/Onset Difficulty climbing stairs (HP:0003551) Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-23 11:49:23 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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