Global Variome shared LOVD

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

Phenotype #0000180001 Individual ID 00239792 Associated disease AHC Diagnosis/Initial Epilepsy Diagnosis/Definite Alternating hemiplegia of childhood Phenotype details Nystagmus (HP:0000639) Global developmental delay (HP:0001263) Epilepsy (HP:0001250) Status epilepticus (HP:0002133) Episodic quadriplegia (HP:0200072) Episodic hemiplegia (HP:0012194) Inheritance Isolated (sporadic) Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 00y08m Phenotype/Onset Nystagmus HP:0000639 Protein - Owner name Ponghatai Damrongphol Database submission license Creative Commons Attribution 4.0 International Created by Ponghatai Damrongphol Date created 2019-06-10 08:40:09 +02:00 (CEST) Date last edited 2019-06-11 10:52:15 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.