Phenotype #0000285810

Individual ID 00392563
Associated disease myotonia congenita (AD)
Phenotype details Myopathy, Skeletal muscle hypertrophy, Global developmental delay, Delayed speech and language development, Abnormality of the neck, Myotonia with warm-up phenomenon; Climbing stairs difficult possible up stairs, down stairs much better, no muscle weakness, warm up phenomenon, jaw and tongue muscles also affected, low hairline, broad neck, below average learning and performance abilities, speech disorder, CK normal.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 14y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2021-11-23 13:44:31 +01:00 (CET)
Date last edited 2021-11-25 09:55:10 +01:00 (CET)

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