Global Variome shared LOVD

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

Phenotype #0000339002 Individual ID 00449855 Associated disease SOTOS Phenotype details facial gestalt, learning disability, scoliosis, seizures; height >99.6 centile, OFC >99.6 centile; overgrowth head, overgrowth height; mild intellectual disability Diagnosis/Initial Sotos syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SOTOS1 Age/Examination 11y (11 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-05-17 18:03:00 +02:00 (CEST) Date last edited 2024-05-19 18:12:29 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.