Phenotype #0000258072

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00362702
Associated disease	MLYCDD
Phenotype details	see paper; ..., developmental delay, acidosis
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-22 19:30:10 +02:00 (CEST)
Date last edited	2021-04-23 15:20:59 +02:00 (CEST)

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