Phenotype #0000345618

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457119
Associated disease	MPS
Diagnosis/Initial	mucopolysaccharidosis
Diagnosis/Definite	MPS2
Phenotype details	severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease
Inheritance	Familial, X-linked recessive
Age/Examination	-
Age/Diagnosis	5y10m
Age/Onset	5y9m
Phenotype/Onset	low IQ
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-31 20:52:19 +01:00 (CET)
Date last edited	N/A

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