Global Variome shared LOVD

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

Phenotype #0000345671 Individual ID 00457174 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; no macrocephaly; macroglossia; joint contractures; inguinal hernia, no umbilical hernia; obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; seizures; hydrocephalus Inheritance Unknown Age/Examination 15y (15 years) Age/Diagnosis 3y Age/Onset - Phenotype/Onset inguinal hernia 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.