Phenotype #0000317635

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00426480
Associated disease	MDC
Phenotype details	3m-died severe pneumonia; no head control; recurrent respiratory tract infection, severe pneumonia; no intellectual disability, no seizures
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	3m
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	muscle weakness, hypotonia
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

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