Global Variome shared LOVD

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

Phenotype #0000229952 Individual ID 00302874 Associated disease NBIA Phenotype details delayed development prior to seizure onset, smiling; seizure onset 17m, febrile seizure; after seizure onset severe intellectual disability, few single words, walks independently, regression with seizure onset loss of speech; atonic seizures (onset 24m), myoclonic (onset uncertain), non-convulsive status epilepticus (onset 2y10m), atypical absence seizures (onset 27m), seizure offset 5y, rare febrile tonic-clonic seizures from 4y2m; EEG generalized spike-wave, polyspike wave, biposterior quadrant epileptiform activity R>L, slow background, atypical absence seizure with 1.5–2.5 Hz generalized spike-wave; MRI brain 23m-normal, 5y-mild cerebellar atrophy, mild reduction in white matter volume; Genua valgum (knock knees), no dysmorphic or behavioral features Diagnosis/Initial myoclonic-atonic seizures Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 7y (7 years) 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 2020-06-02 21:08:08 +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.