Phenotype #0000125306

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00102664
Associated disease	MDC
Phenotype details	severe, looked like possible SMA; scoliosis and respiratory insufficiency, never walked; was quite severe from early infancy; CPK: 270; wasn't crawling, never walked
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	5y6m
Phenotype/Onset	4m
Protein	-
Owner name	Vikki Stefans
Database submission license	No license selected
Created by	Vikki Stefans
Date created	2014-11-27 00:29:00 +01:00 (CET)
Date last edited	2014-11-29 15:29:06 +01:00 (CET)

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