Global Variome shared LOVD

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

Phenotype #0000231811 Individual ID 00305963 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDAMSS Phenotype details see paper; ...,childhood normal motor milestones, 3y-started speaking, mental development slightly delayed, first 3y academic performance sufficient, 11y-progressive mental retardation, 10y-generalized photosensitive and myoclonic epilepsy; 36y-seizures (well controlled with medicati), severe mental retardation, cerebellar syndrome, dysarthria, markedly reduced ocular saccades in both planes associated with insuppressible head movements, generalized choreodystonia, increased tendon reflexes, positive Babinski sign bilaterally; EEG shows irregular theta activity, frequent sharp theta waves, complexes of sharp and slow waves over the left hemisphere with incomplete synchronization Inheritance Isolated (sporadic) Age/Examination 36y (36 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 2020-07-06 12:28:19 +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.