Phenotype #0000344441

Global Variome shared LOVD

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

	Curator: Global Variome, with Curator vacancy

Individual ID	00455912
Associated disease	MPS
Diagnosis/Initial	mucopolysaccharidosis
Diagnosis/Definite	MPS2
Phenotype details	see paper; ..., attenuated, intelligence quotient DQ 89
Inheritance	Familial, X-linked recessive
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-21 12:14:50 +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.