Global Variome shared LOVD

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Phenotype #0000306876 Individual ID 00415075 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., profound developmental delay, no speech, unable to sit; 6m-focal, generalized seizures; 5y-MRI ventriculomegaly, leukoencephalopathy, paucity of the white matter, suspected periventricular microcalcifications, frontal polymicrogyria, temporoparietal thickening of the cortex; hypotonia, dyskinesia, stereotypic movements; microcephaly; short stature, low weight; abnormalities of VEPs Inheritance Familial, autosomal dominant Age/Examination 05y11m (5 years, 11 months) 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 2022-08-06 22:07:04 +02:00 (CEST) Date last edited 2022-08-08 15:18:32 +02:00 (CEST)

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