Phenotype #0000089960

Individual ID 00114478
Associated disease MPS2
Phenotype details see paper; ..., birth cryptorchidism, bilateral simian creases, short proximal upper extremities, club foot (left), metatarsus abductus (right), flexion deformities both hands; 2m-optic atrophy, contractures elbows, radiography showed dysostosis multiplex; 21m-severe developmental delay
Diagnosis/Initial mucopolysaccharidosis
Inheritance Familial, X-linked recessive
Diagnosis/Definite MPS2
Age/Examination 00y ()
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2009-11-28 19:57:45 +01:00 (CET)
Date last edited 2024-10-08 19:21:32 +02:00 (CEST)

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