Global Variome shared LOVD

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

Phenotype #0000328218 Individual ID 00438314 Associated disease epilepsy Phenotype details HP:0001250 seizures; HP:0001263 global developmental delay; HP:0003265 neonatal hyperbilirubinemia; HP:0001998 neonatal hypoglycemia; HP:0001298 encephalopathy; HP:0001643 patent ductus arteriosus; HP:0012469 infantile spasms; HP:0002342 intellectual disability, moderate; HP:0002333 motor deterioration; HP:0200134 epileptic encephalopathy; HP:0001601 laryngomalacia; HP:0012448 delayed myelination; HP:0001655 patent foramen ovale Diagnosis/Initial epilepsy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 2y 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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