Phenotype #0000353720

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00468567
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRT71
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., intellectual disability, global developmental delay
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-11 17:19:54 +01:00 (CET)
Date last edited	N/A

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