Global Variome shared LOVD

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Phenotype #0000343485 Individual ID 00454878 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; non-ambulatory; no speech; intellectual disability; no behavioral issues; N/A; hypotonia (truncal); seizures; MRI brain abnormal, 5y-thinning of corpus callosum, empty sella, enlarged ventricles, periventricular leukomalacia, punctate T2 hyperintensities, possible mild underdevelopment of the inferior cerebellar vermis. MRI at 8y - asymmetric enlargement and T2 FLAIR hyperintense signal throughout left hippocampus, which may be related to recent seizure; stable chronic changes including scattered white matter changes; 9y - development of left hippocampal atrophy at the site of previous left hippocampal enlargement. Newly associated slight ex vacuo dilatation of the left ventricle temporal horn. Inheritance Isolated (sporadic) Age/Examination 10y (10 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

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