Phenotype #0000157199

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00208524
Associated disease	MDCL
Phenotype details	muscular dystrophy; gross motor developmental delay; severe scoliosis, limb-girdle muscular dystrophy; White mater abnormality
Diagnosis/Initial	metachromatic leukodystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDC1A
Age/Examination	14y (14 years)
Age/Diagnosis	14y
Age/Onset	-
Phenotype/Onset	14y
Protein	-
Owner name	Kien Trung Tran
Database submission license	No license selected
Created by	Kien Trung Tran
Date created	2018-12-10 08:34:31 +01:00 (CET)
Date last edited	2018-12-14 16:08:05 +01:00 (CET)

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