Phenotype #0000199404

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00260870
Associated disease	MRT
Phenotype details	see paper; ..., microcephaly (2/3), severe (2/3)/moderate (1/3) intellectual disability, absentd speech, delayed motor milestones, no epilepsy, spastic hypertonia (2/3), 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 11:27:27 +02:00 (CEST)
Date last edited	N/A

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