Phenotype #0000344496

Individual ID	00455975
Associated disease	MPS2
Phenotype details	moderate; developmental delay, speech delay; 6y-impaired mobility; 9y-height 122.7cm (<3rd centile), weight 26.2kg (<3rd centile), OFC 56.5cm (97th centile), thickness of mitral valve II/III, prolapse with mitral valve regurgitation, LA/LV hypertrophy, claw hands, spinal deformity, joint stiffness, joint contractures, seizures, development delay, behavioral problems; intellectual disability (IQ24)
Diagnosis/Initial	mucopolysaccharidosis
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	MPS2
Age/Examination	11y (11 years)
Age/Diagnosis	05y
Age/Onset	04y
Phenotype/Onset	developmental delay, speech delay
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-21 22:33:31 +02:00 (CEST)
Date last edited	2024-12-07 15:51:11 +01:00 (CET)

Global Variome shared LOVD