Global Variome shared LOVD

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Phenotype #0000331092 Individual ID 00303561 Associated disease epilepsy Phenotype details see paper; ..., microcephaly; global developmental delay; not sitting; not waking; language notdelayed; profound intellectual disability; myoclonic/generalised tonic clonic seizures; delayed myelination; no dysmorphic features; tone increased; power reduced; reflexes reduced Diagnosis/Initial epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2023-11-09 11:45:08 +01:00 (CET) Date last edited N/A

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