Phenotype #0000317695

Individual ID	00426540
Associated disease	MDC
Phenotype details	5m-head control, 1.5y-sit, 6y-walk; no motor regression; contractures knee, ankle, hip; no spinal deformity; no respiratory involvement; ECG normal; normal ultrasonic cardiogram; difficulty chewing, constipation; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 9m-4627 U/L; MRI brain 9m-abnormal white matter hyperintensities; MRI thigh muscle diffuse fatty infiltration
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	8.3y
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	muscle weakness, hypotonia, weak cry
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