Global Variome shared LOVD

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Phenotype #0000233297 Individual ID 00307873 Associated disease EPM3;CLN14 Phenotype details Global developmental delay, Seizures, Abnormal facial shape Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 02y02m Age/Onset 00y01m Phenotype/Onset - Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 02:18:28 +02:00 (CEST) Date last edited 2020-08-23 15:30:15 +02:00 (CEST)

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