Global Variome shared LOVD

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

Phenotype #0000238253 Individual ID 00313954 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite WITKOS Inheritance Isolated (sporadic) Phenotype details see paper; ..., intellectual disability (TIQ <70); OFC percentile P3; height percentile P25; MRI brain cortical dysgenesis, corpus callosum dysgenesis, white matter abnormalities; no autism spectrum disorder; epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; thin hair Age/Examination 4y9m (4 years, 9 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-09 15:12:14 +02:00 (CEST) Date last edited N/A

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