Global Variome shared LOVD

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

Phenotype #0000082210 Individual ID 00104268 Associated disease JBTS Phenotype details Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; Neurodevelopmental delay; Dysarthria; Gait ataxia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Enza Maria Valente Database submission license No license selected Created by Enza Maria Valente Date created 2017-05-12 13:02:46 +02:00 (CEST) Date last edited 2017-05-12 15:47:27 +02:00 (CEST)

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