Global Variome shared LOVD

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Phenotype #0000357256 Individual ID 00472446 Associated disease metabolic disease Phenotype details microcephaly (HP:0000252); epileptic encephalopathy (HP:0200134); gneralized myoclonic seizure (HP:0002123); atypical absence seizure (HP:0007270); delayed speech and language development (HP:0000750); EEG abnormality (HP:0002353); short attention span (HP:0000736); motor stereotypy (HP:0000733); recurrent hand flapping (HP:0100023); hypoglycorrhachia (HP:0011972) Diagnosis/Initial glucose transporter 1 deficiency syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite GLUT1DS1 Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-16 15:46:49 +01:00 (CET) Date last edited N/A

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