Phenotype #0000199403

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00260869
Associated disease	MRT
Phenotype details	see paper; ..., microcephaly, severe intellectual disability, slurred speech, delayed motor milestones, uncontrolled epilepsy (1/2), no muscular abnormality, aggressive
Diagnosis/Initial	intellectual disability
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MRT-64
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-08-09 11:18:48 +02:00 (CEST)
Date last edited	N/A

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