Phenotype #0000317649

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00426494
Associated disease	MDC
Phenotype details	1y6m-died severe pneumonia; 5m-head control, 1y-sit; contractures ankle; no spinal deformity; recurrent respiratory tract infection, severe pneumonia; no feeding difficulty; no intellectual disability, no seizures; MRI brain abnormal white matter hyperintensities
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	1.5y
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