Global Variome shared LOVD

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Phenotype #0000325830 Individual ID 00435646 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 2y-severe anaemia, occasional transfusions, episode of haemolysis triggered by infection8y-BM showed myelodysplastic syndrome with aplastic anaemia, haematopoiesis, chronic haemolysi; 4m-infantile spasms; 1y-generalized tonic seizures, focal motor with impaired awareness (daily); EEG 4m–12y hypsarrhythmia, then slow background, multifocal epileptiform discharges; MRI brain 4m, 2y, 10y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive widespread white matter abnormality, ventricular dilatation, cerebellar atrophy, and trabecular bone thickening; global profound developmental delay, quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe anemia requiring occasional transfusions Inheritance Isolated (sporadic) Age/Examination 17y (17 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 2023-08-07 11:56:16 +02:00 (CEST) Date last edited N/A

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