Global Variome shared LOVD

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Phenotype #0000334408 Individual ID 00445154 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ...; EEG abnormal; epilepsy; severe global delayed development, severe intellectual disability, macrocephaly, medically refractory epilepsy, dysmorphisms, dysarthria, dysphagia, congenital hypotonia, gastroesophageal reflux disease, constipation, motor stereotypies, mild tremor, infantile exotropia, delayed visual maturation, persistent sialorrhea, hydronephrosis, recurrent UTI’s, frequent pneumonia Inheritance Isolated (sporadic) Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-01-05 10:36:32 +01:00 (CET) Date last edited N/A

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