Global Variome shared LOVD

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

Phenotype #0000343484 Individual ID 00454877 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, congenital; global developmental delay; 7y6m-walk; no speech; intellectual disability; no behavioral issues; N/A; hypotonia; seizures; MRI brain abnormal, EEG 7y-consistent with an encephalopathy. Multiple events captured consistent with nonepileptic paroxysms. Brain MRIs showed bifrontal periventricular nodular heterotopia L>R with mild prominence of the ventricular system, thin corpus callosum and some hypoplasia of the cerebral white matter. Foci of FLAIR hyperintensities in centrum semiovale/corona radiata (R>L) of unclear etiology. Decrease in cavum septum pellucidum. Inheritance Isolated (sporadic) Age/Examination 9y (9 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 2024-09-30 10:26:47 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.