Phenotype #0000317698

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00426543
Associated disease	MDC
Phenotype details	2y-sit; 6.6y-muscle weakness; contractures knee, elbow; no spinal deformity; 2d-respiratory difficulty, 1y-3y-recurrent respiratory tract infection; ECG normal; no feeding difficulty; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 11m-2798 U/L
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	8.5y
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	muscle weakness, hypotonia, weak cry, respiratory difficulty
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