Global Variome shared LOVD

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

Phenotype #0000337135 Individual ID 00447942 Associated disease EIEE Phenotype details see paper; ..., global developmental delay, spastic cerebral palsy, postnatal microcephaly; seizure types flexor spasms, tonic spasms, generalized tonic clonic; EEG Hypsarrhythmia, multifocal spike wave; MRI brain delayed myelination Diagnosis/Initial early infantile epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite MRD59 Age/Examination - Age/Diagnosis - Age/Onset 4m Phenotype/Onset - Protein - Intellectual_dis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-02 18:50:24 +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.