Phenotype #0000223049

Individual ID	00289439
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Unknown
Phenotype details	uneventful pregnancy; normal birth measurements; sit-10m, walk-18m; language delayed, 5y-first words; 11y-not able to read or write; 10y-muscular pains during physical exercises, initially on feet, extending to legs and hands, associated with severe muscular fatigue; no motor deficiency, morphology 'athletic', global muscular hypertrophy; elevated CK (579 U/l, normal <160 U/l); no myoglobinuria, ECM myogenic pattern, muscle biopsy indicated non-specific histology; ECG and cardiac ultrasound normal; 16y-generalized epilepsy response to monotherapy; MRI brain normal; no dysmorphic features
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-03-09 20:41:07 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD