Global Variome shared LOVD

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

Phenotype #0000351418 Individual ID 00466034 Associated disease RSTS Diagnosis/Initial Rubinstein-Taybi syndrome Diagnosis/Definite RSTS2 Phenotype details see paper; ..., growth retardation; birth-35w, weight 2.13 kg; preterm low birth weight; no intrauterine growth restriction noted Inheritance Isolated (sporadic) Age/Examination 02y03m (2 years, 3 months) 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 2025-07-08 15:41:04 +02:00 (CEST) Date last edited N/A

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