Phenotype #0000323914

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00433438
Associated disease	MDC1A
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Phenotype details	Proximal muscle weakness in upper limbs (HP:0008997) Proximal muscle weakness in lower limbs (HP:0008994) wheelchair-dependence
Age/Examination	04y (4 years)
Age/Diagnosis	00y04m
Age/Onset	00y01m
Phenotype/Onset	Weak cry (HP:0001612)
Protein	-
Owner name	Nguyen Hoang
Database submission license	No license selected
Created by	Nguyen Hoang
Date created	2023-03-09 08:27:49 +01:00 (CET)
Date last edited	2023-03-09 14:54:05 +01:00 (CET)

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