Phenotype #0000303993

Individual ID 00411966
Associated disease myotonia
Phenotype details myotonia; EMG no myotonia; no warm-up phenomenon/paradoxical myotonia; myopathy hands,myopathy facial muscles; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis
Diagnosis/Initial non-dystrophic myotonia
Inheritance Unknown
Diagnosis/Definite Chilblain lupus 2 (614415)
Age/Examination -
Age/Onset 20y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-06-20 13:19:24 +02:00 (CEST)
Date last edited N/A

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