Phenotype #0000328651

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00438753
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRD56
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., global developmental delay, moderate/severe intellectual disability; no seizures; hypotonia
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-23 14:39:29 +02:00 (CEST)
Date last edited	N/A

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