Phenotype #0000025818

Individual ID 00032349
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; atypical Singleton-Merten syndrome; aortic calcification, glaucoma, skeletal abnormalities, ..
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2015-02-15 22:43:03 +01:00 (CET)
Date last edited N/A

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