Global Variome shared LOVD

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

Phenotype #0000220825 Individual ID 00153392 Associated disease EIEE3 Phenotype details severe motor dysphasia, difficulties in chewing and swallowing, continuous drooling, accompanied by hemiparesis, microcephaly and progressive kyphoscoliosis, severe expressive speech dyspraxia, poor communication skills, could write simple words and could communicate Diagnosis/Initial - Inheritance - Diagnosis/Definite - Age/Examination 00y08m (8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Laurent Villard Database submission license No license selected Created by Laurent Villard Date created 2020-02-12 10:32:56 +01:00 (CET) Date last edited 2020-02-29 10:19:29 +01:00 (CET)

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