Phenotype #0000344882

Global Variome shared LOVD

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

Individual ID	00456367
Associated disease	MPS
Diagnosis/Initial	Hurler–Scheie syndrome
Diagnosis/Definite	MPS1-HS
Phenotype details	corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, extensive Mongolian spots, splenomegaly, umbilical hernia
Inheritance	Familial, autosomal recessive
Age/Examination	1y2m (1 year, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
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.