Global Variome shared LOVD

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Phenotype #0000207316 Individual ID 00269489 Associated disease EE Phenotype details see paper; ...; developmental and epileptic encephalopathy; <1y-tonic-clonic seizure; 8y-seizure offset; global developmental delay, no regression; mild intellectual disability, sentences, ambulatory, self-feeds; MRIbrain 52y/53y-multiple nonenhancing white matter abnormalities, arachnoid cyst, mineral deposits in the orbit; epileptic encephalopathy (HP:0200134) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite DEE112 Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Francesca Bisulli Database submission license No license selected Created by Francesca Bisulli Date created 2019-11-28 18:02:05 +01:00 (CET) Date last edited 2023-12-01 19:53:13 +01:00 (CET)

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