Phenotype #0000338737

Individual ID 00449562
Associated disease myotonia congenita (AD)
Phenotype details see paper; ..., eye lid myotonia, lid lag, tongue myotonia, myotonia during rapid voluntary muscle movements, muscle stiffness, muscle pain, percussion myotonia, handgrip myotonia, delayed relaxation muscle after contraction, no muscle hypertrophy, muscle weakness, no hypotonia, no hyporeflexia, no neonatal apnea, response to cold exposure, EMG myotonic discharges
Diagnosis/Initial myotonia congenita
Inheritance Familial, autosomal dominant
Diagnosis/Definite THD
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset -
Protein -
Owner name Nesma M. Elaraby
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Nesma M. Elaraby
Date created 2024-04-24 02:21:28 +02:00 (CEST)
Date last edited 2026-04-07 13:54:09 +02:00 (CEST)

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