Phenotype #0000209281 - Global Variome shared LOVD

Global Variome shared LOVD

SIX6 (SIX homeobox 6)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000209281

Individual ID	00274338
Associated disease	?
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRT57
Phenotype details	head control-7m, sit-2y, walk-4y6m; no speech; onset seizures-7m, myoclonic seizures; child autism rating scale 28; head circumference -1SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain normal
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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