Global Variome shared LOVD

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

Phenotype #0000328298 Individual ID 00438394 Associated disease epilepsy Phenotype details HP:0001250 seizures; HP:0001281 tetany; HP:0032245 abnormal metabolism; HP:0002917 hypomagnesemia; HP:0002148 hypophosphatemia; HP:0001396 cholestasis; HP:0002902 hyponatremia; HP:0001903 anemia; HP:0001942 metabolic acidosis Diagnosis/Initial epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 24d 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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