Phenotype #0000125398

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00103777
Associated disease	MDC
Phenotype details	hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371), scoliosis (HP:0002650), inability to walk (HP:0002540), seizures (HP:0001250), intellectual disability (HP:0001249)
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	00y00m00d
Phenotype/Onset	-
Protein	-
Owner name	Jorge Oliveira
Database submission license
Created by	Jorge Oliveira
Date created	2017-04-19 17:54:56 +02:00 (CEST)
Date last edited	N/A

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