Phenotype #0000357795

Individual ID 00473000
Associated disease myotonia
Phenotype details onset 1y with difficulty running and muscle cramp; Myotonia more pronounced in the extremities; Flat feet; Hand tremor; Handgrip myotonia; Upper & lower muscle weakness, proximal > upper; Muscle stiffness; Splenomegaly; Low platelet count; EMG-NCV is suggestive of myotonic disorder; Muscle biopsy: compatible with myotonic dystrophy; Positive Hx of Hypothyroidism and Abnormal urinary color with flank pain
Diagnosis/Initial congenital myotonia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 35y (35 years)
Age/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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