Phenotype #0000343792

Individual ID	00455212
Associated disease	MPS
Diagnosis/Initial	mucopolysaccharidosis
Diagnosis/Definite	MPS2
Phenotype details	see paper; ..., 8y-height 118 cm (10th centile), coarse face, hepatosplenomegaly, dysostosis multiplex, walking difficulties, history of neurological regression, no corneal opacification; electrocardiogram normal; echocardiogram mild regurgitation aortic/mitral valves, mild thickening aortic valve
Inheritance	Familial, autosomal recessive
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	04y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-06 15:54:11 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD