Phenotype #0000094126

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00119128
Associated disease	MD
Phenotype details	see paper; ..., congenital muscular dystrophy, fatty liver, infantile-onset cataract
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-09-08 12:18:26 +02:00 (CEST)
Date last edited	2017-09-08 12:28:49 +02:00 (CEST)

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