Phenotype #0000024953

Individual ID 00028884
Associated disease MNS
Phenotype details see paper; 4m-referred prior to surgery for craniosynostosis, skullabnormal shap, CT-scan showed synostosis of coronal, lambdoid and posterior sagittal sutures; fixed flexion deformities at wrists, metacarpophalangeal joints, similar milder deformities elbows/knees; forearms/forelegs bowed; genitalianormal; hip abduction limited; ECG atrial septal defect; corneal hypoplasia with shallow anterior chamber, marked hypermetropia but normal fundi, ...
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 00y24m (24 months)
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 2015-01-03 11:05:18 +01:00 (CET)
Date last edited N/A

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