Global Variome shared LOVD

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Phenotype #0000037073 Individual ID 00050461 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details optic atrophy, seizures, preauricular skin tag, global developmental delay, bruxism, neonatal hypotonia, generalized myoclonic seizures, cryptorchidism, seizures, global developmental delay, blindness, pontocerebellar hypoplasia, abnormality of the thalamus Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-09-27 16:16:40 +02:00 (CEST) Date last edited N/A

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