Phenotype #0000125145

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00102216
Associated disease	MDC
Phenotype details	generalized axial weakness, respiratory distress episodesnocontractures; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 1085; no mental retardation; sit
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	0d
Phenotype/Onset	hypotonia, mild neonatal distress
Protein	IHC no LAMA2
Owner name	Rosário dos Santos
Database submission license	No license selected
Created by	Rosário dos Santos
Date created	2007-10-08 08:33:43 +02:00 (CEST)
Date last edited	2019-08-02 19:23:04 +02:00 (CEST)