Global Variome shared LOVD

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Phenotype #0000343475 Individual ID 00454868 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature (-2 SD); microcephaly, congenital; severe global developmental delay; 2y-walk; speech few words (3 words); intellectual disability; behavioral issues; cheerful, sociable, loves music, has a sense of humour, stereotypical movements (hand flapping, chewing); hypotonia (axial); seizures; MRI brain abnormal, aspecific findings : Several hyperintense millimeter spots in FLAIR in the deep white matter near the lateral ventricles. Less than ten on the right and left at the age of 15 y Inheritance Isolated (sporadic) Age/Examination 21y (21 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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