Global Variome shared LOVD

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Phenotype #0000142629 Individual ID 00180175 Associated disease ? Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations Diagnosis/Definite GLUT1DS-2 Phenotype details Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), microcephaly (HP:0000252), global developmental delay (HP:0001263), episodic (morning) ataxia (HP:0002131), resting tremor (HP:0002322), hypoglycemia (HP:0001943). Inheritance Familial, autosomal dominant 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 2018-08-24 19:40:22 +02:00 (CEST) Date last edited N/A

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