Global Variome shared LOVD

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

Phenotype #0000326337 Individual ID 00436156 Associated disease ? Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details psychomotor delay; motor delay; speech delay; no intellectual disability; mild developmental delay; no facial dysmorphism; macrocephaly; abnormal behavior; autism spectrum disorder; no attention deficit-hyperactivity disorder; stereotyped movements; no hypotonia; no spasticity; no dysarthria; no sleep disorder; no epilepsy; no seizures; EEG normal; MRI brain no white matter involvement, no subcortical abnormalities, no corpus callosum hypoplasia, no optic chiasm hypoplasia, no ventricular enlargement, gyration defects Inheritance Familial, autosomal dominant Age/Examination 12y (12 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 17:02:17 +02:00 (CEST) Date last edited 2024-02-21 18:23:29 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.