Phenotype #0000317764

Individual ID	00426609
Associated disease	MDC
Phenotype details	4m-head control, 9m-sit, 1.5y-walk; no motor regression; no contractures; no spinal deformity; no respiratory involvement; ECG normal; ultrasonic cardiogram mildmitral regurgitation, tricuspid regurgitation; no feeding difficulty; no regular rehabilitation; no intellectual disability, 23y-epilepsy; raised serum CK highest 21y-1025 U/L; MRI brain 22y-abnormal white matter hyperintensities
Diagnosis/Initial	limb-girdle muscular dystrophy
Diagnosis/Definite	LGMDR23
Inheritance	Familial, autosomal recessive
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	difficulty running and jumping
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-01 16:50:45 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD