Phenotype #0000180306

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00240155
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRT71
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; …, intellectual disability (4/4), epilepsy (4/4), global developmental delay (4/4)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-06-11 17:44:39 +02:00 (CEST)
Date last edited	2025-11-11 17:14:38 +01:00 (CET)

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