Global Variome shared LOVD

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Phenotype #0000356810 Individual ID 00472001 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., brith 36w; severe developmental delay; intellectual disability; no speech; hypotonia; occasional clonic seizures; EEG abnormal right centro-temporal spikes; MRI/CT periventricular white matter gliosis, thin corpus callosum; epicanthus, low-set ears, thin eyebrows, mild micrognathia; atrial septal defect; bilateral thrombotic microangiopathy; severe neurosensorial hypoacusis; thrombocytopenia; atypical hemolytic uremic syndrome Inheritance Isolated (sporadic) Age/Examination 1y (1 year) 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 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

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