Phenotype #0000344482

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455955
Associated disease	MPS
Diagnosis/Initial	Hunter syndrome
Diagnosis/Definite	MPS2
Phenotype details	coarse facial appearance, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, mitral valve prolapse; 12y-grade 6, maintains self-help skills
Inheritance	Familial, X-linked recessive
Age/Examination	12y (12 years)
Age/Diagnosis	9y
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-21 16:50:49 +02:00 (CEST)
Date last edited	N/A

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