Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000328236 Individual ID 00438332 Associated disease epilepsy Phenotype details HP:0001250 seizures; HP:0003593 infantile onset; HP:0001265 hyporeflexia; HP:0002353 eeg abnormality; HP:0006872 cerebral hypoplasia; HP:0011182 epileptiform eeg discharges; HP:0002333 motor deterioration; HP:0000750 delayed speech and language development; HP:0001252 muscular hypotonia Diagnosis/Initial epilepsy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1m 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 2023-10-20 19:13:42 +02:00 (CEST) Date last edited N/A

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