Global Variome shared LOVD

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Phenotype #0000229951 Individual ID 00302873 Associated disease NBIA Phenotype details delayed development prior to seizure onset, rolled over=5m, sat-10m; seizure onset 8m infantile spasms; delayed development after seizure onset, no speech, pulls to stand, cruising, eats with spoon, no regression; focal impaired awareness seizures (9m), infantile spasms with head deviation to L (16m); seizure offset ongoing; EEG-8m modified hypsarrhythmia, 9m-bi-temporal epileptiform activity during sleep, hypsarrhythmia resolved, from 10m-multifocal epileptiform activity, generalized spike-wave; MRI brain 7m-prominence of ventricles and extra axial cerebrospinal fluid spaces, incomplete rotation of L hippocampi, generally thin corpus callosum, normal white matter volume and myelination; hypertension (frusemide 1mg/kg daily), diarrhoea, no behavioral features, cushingoid features Diagnosis/Initial infantile spasms Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 2y (2 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

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