Phenotype #0000053397

Individual ID 00073661
Associated disease LGMDR2;LGMD2B
Phenotype details no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset 21y
Phenotype/Onset -
Protein -
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-06-17 10:55:12 +02:00 (CEST)
Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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