Phenotype #0000209288

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00274345
Associated disease	?
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRT57
Phenotype details	head control-1y, sit-1y6m; no speech; onset seizures-6m, myoclonic seizures; child autism rating scale 42; head circumference -2.8SD; hypotonia infancy; hypertonia; intellectual disability
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-12-29 15:57:46 +01:00 (CET)
Date last edited	N/A

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