Phenotype #0000344499

Individual ID	00455978
Associated disease	MPS2
Phenotype details	see paper; ..., 8y-mild hepatosplenomegaly, growth delay, diffuse arthropathy with important bilateral stiffness fingers/toes/elbows/shoulders; ECG thickening aortic valve, anterior/posterior leaflet thickening mitral valve; normal functional respiratory tests; impaired eyesight, abnormal macular region pattern (cellophane aspect); mild bilateral elevation perceptive threshold high frequencies; no intellectual disability (IQ 108); 13y-enzyme replacement therapy
Diagnosis/Initial	Hunter syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MPS2
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-22 08:12:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD