Global Variome shared LOVD

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

Phenotype #0000334420 Individual ID 00445166 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ...; EEG abnormal; severe global developmental delay, intellectual disability, dystonic diplegia, dysarthria, hypotonia, epilepsy, dysmorphisms, microcephaly, autistic features, severe emotional lability, ataxic gait, lower limb hypertonia, strabismus, exotropia Inheritance Unknown Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-01-05 10:36:32 +01:00 (CET) Date last edited N/A

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