Global Variome shared LOVD

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Phenotype #0000325835 Individual ID 00435651 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ...,f rom birth severe haemolytic anaemia with macrocytosis, thrombocytopenia, hepatosplenomegaly, transfusion dependent, hyperbilirubinemia, left vesicoureteral reflux (13y-surgical correction), chronic urinary retention; 6m-infantile spasms; tonic seizures daily; generalized tonic-clonic seizures (monthly); EEG 4m–16y hypsarrhythmia, then slow background, bilateral independent or multifocal discharges, epileptic spasms and tonic seizures recorded; MRI brain 7m, 2y, 4y, 8y thin corpus callosum, multifocal white matter abnormalities, asymmetric dysmorphic lateral ventricles, progressive trabecular bone thickening; global profound developmental delay, generalized hypotonia, microcephaly, visual impairment, nystagmus, squint, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe hemolytic anemia, transfusion dependent Inheritance Isolated (sporadic) Age/Examination 16y (16 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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