Phenotype #0000285810

Individual ID	00392563
Associated disease	-
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
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)

Global Variome shared LOVD