Phenotype #0000053558

Individual ID 00073748
Associated disease ?
Diagnosis/Initial asymptomatic hyperCPKaemia
Diagnosis/Definite -
Phenotype details no scapular winging (-HP:0003691), no gait disturbance (-HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114)
Inheritance Familial, autosomal recessive
Age/Examination 21y (21 years)
Age/Diagnosis -
Age/Onset 16y
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-06-22 13:55:16 +02:00 (CEST)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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