Global Variome shared LOVD

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

Phenotype #0000130097 Individual ID 00164001 Associated disease AHC Diagnosis/Initial AHC Diagnosis/Definite AHC Phenotype details hemiplegia start at 11m, 7-8 times/m, Epileptic seizure (GTCS), quadriplegia, abnormal eye movement, dystonia, developmental delay Inheritance Familial, autosomal dominant Age/Examination 03y (3 years) Age/Diagnosis 03y Age/Onset 00y05m Phenotype/Onset Epileptic seizure Protein - Owner name Xiaoxu Yang Database submission license No license selected Created by Xiaoxu Yang Date created 2018-07-02 00:49:48 +02:00 (CEST) Date last edited 2018-07-02 14:01:23 +02:00 (CEST)

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