Phenotype #0000346623

Individual ID 00458186
Associated disease MPS
Diagnosis/Initial short stature
Diagnosis/Definite MPS2
Phenotype details see paper; ..., short stature (<3rd centile), weight (50th–75th), OFC (50th–75th); angle class III dental malocclusion, faint gingival hypertrophy, brachydactyly, bending of fingers, limited pronation, reduced elbow flexion, lumbar hyperlordosis; no intellectual disability; dysostosis multiplex: anisospondyly, converging radius/ulnar distal extremities, small/irregular carpal bones, pointed proximal ends second/fifth metacarpal
Inheritance Isolated (sporadic)
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-12-07 20:03:39 +01:00 (CET)
Date last edited N/A

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