Global Variome shared LOVD

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

Phenotype #0000345705 Individual ID 00457208 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details severe developmental delay; developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; obesity; heart valve involvement; cardiomyopathy; no hearing impairment; no seizures; no seizures Inheritance Familial, X-linked recessive Age/Examination 25y (25 years) Age/Diagnosis 2y Age/Onset 7m Phenotype/Onset cardiomyopathy Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-01 14:10:43 +01:00 (CET) Date last edited N/A

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