Phenotype #0000130028

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Jonna Tallila

Individual ID	00165131
Associated disease	ML
Diagnosis/Initial	mucolipidosis
Diagnosis/Definite	ML-3C
Phenotype details	see paper; ..., no family history,
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	07y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Renata Voltolini Velho
Database submission license
Created by	Johan den Dunnen
Date created	2018-06-27 14:47:07 +02:00 (CEST)
Date last edited	N/A

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