Phenotype #0000343793

Individual ID	00455213
Associated disease	MPS
Diagnosis/Initial	mucopolysaccharidosis
Diagnosis/Definite	MPS2
Phenotype details	see paper; ..., 3m-macrocephaly; 8y-height 122.8 cm (25th centile), coarse face, joint contractures, dysostosis multiplex, hyperactivity, severe neurodevelopmental delay, no verbal communication, no corneal opacification, echocardiogram mild mitral/tricuspid insufficiency, concentric remodeling left ventricle, mild pulmonary hypertension
Inheritance	Familial, X-linked recessive
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	00y03m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-06 16:00:57 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD