Global Variome shared LOVD

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

Phenotype #0000326338 Individual ID 00436157 Associated disease ? Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details psychomotor delay; motor delay; speech delay; intellectual disability; mild developmental delay; no facial dysmorphism; no macrocephaly; abnormal behavior; autism spectrum disorder; no attention deficit-hyperactivity disorder; stereotyped movements; hypotonia; no spasticity; no dysarthria; sleep disorder; epilepsy; 1y-onset multifocal seizures; EEG multifocal discharges, slowing of background activity; MRI brain white matter involvement, no subcortical abnormalities, corpus callosum hypoplasia, no optic chiasm hypoplasia, no ventricular enlargement, no gyration defects Inheritance Familial, autosomal dominant Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Marcello Scala Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marcello Scala Date created 2023-08-29 17:03:51 +02:00 (CEST) Date last edited 2024-02-21 18:24:42 +01:00 (CET)

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