Phenotype #0000239763

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00316018
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	microcephaly, seizures, developmental delay, hypotonia, cortical visual impairment, non-verbal
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 years)
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	2020-11-01 11:44:15 +01:00 (CET)
Date last edited	N/A

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