Phenotype #0000296526

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00403846
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDMIGS
Phenotype details	intellectual disability; negative urine organic acids and GAGs, Tandem MS, plasma lactate, uric acid, lipid profile;
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-24 15:46:26 +01:00 (CET)
Date last edited	2025-07-23 09:51:55 +02:00 (CEST)

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