Global Variome shared LOVD

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

Phenotype #0000344924 Individual ID 00456409 Associated disease MPS Diagnosis/Initial Hunter syndrome Diagnosis/Definite MPS2 Phenotype details severe; coarse facial features, dysostosis multiplex, hepatomegaly, hypotonia, inguinal hernia, joint stiffness, intellectual disability, recurrent respiratory infections, splenomegaly, umbilical hernia Inheritance Familial, X-linked recessive Age/Examination 10y5m (10 years, 5 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 2024-10-25 15:49:01 +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.