Global Variome shared LOVD

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

Phenotype #0000344479 Individual ID 00455952 Associated disease MPS Diagnosis/Initial Hunter syndrome Diagnosis/Definite MPS2 Phenotype details coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, obstructive airway disease, hearing loss; 6y-K3 special class, maintains self-help Inheritance Isolated (sporadic) Age/Examination 6y (6 years) Age/Diagnosis 4y7m 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 2024-10-21 16:50:49 +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.