Global Variome shared LOVD

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

Phenotype #0000254243 Individual ID 00358945 Associated disease AHC Diagnosis/Initial - Diagnosis/Definite AHC Phenotype details Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Intellectual disability, moderate (HP:0002342); no Seizure (-HP:0001250); no Dystonia (-HP:0001332); no Myoclonus (-HP:0001336) Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 00y00m Phenotype/Onset 0m Protein - Owner name Elisa De Grandis Database submission license No license selected Created by Elisa De Grandis Date created 2021-03-18 11:42:43 +01:00 (CET) Date last edited 2021-04-03 17:57:21 +02:00 (CEST)

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