Phenotype #0000238509

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00314707
Associated disease	?
Diagnosis/Initial	developmental eye defects
Diagnosis/Definite	-
Phenotype details	see paper; severe delays, seizures, microcephaly, sensorineural deafness, chorioretinal defect, ...
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	2020-10-14 10:44:55 +02:00 (CEST)
Date last edited	N/A

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