Phenotype #0000126547
Individual ID |
00153870 |
Associated disease |
ATS |
Phenotype details |
no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinning, thickening and splitting; 52y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) |
Diagnosis/Initial |
Alport syndrome with diffuse leiomyomatosis |
Inheritance |
Unknown |
Diagnosis/Definite |
- |
Age/Examination |
53y (53 years) |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
Protein |
- |
Owner name |
Judy Savige |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2018-02-19 09:42:17 +01:00 (CET) |
Date last edited |
N/A |
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