Phenotype #0000071837

Individual ID 00093446
Associated disease ATS
Phenotype details micro and macrohaematuria, proteinuria, normal serum creatinine. Esophageal leiomyomatosis. Mother had microhaematuria, intermitenet proteinuria, gross hematuris episodes from childhood, esophageal achalasia at 22y, uterine leiomyomatosis.; no hearing loss; no ocular phenotype; glomerulus abnormal
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Judy Savige
Database submission license No license selected
Created by Judy Savige
Date created 2013-03-22 05:56:30 +01:00 (CET)
Date last edited 2016-12-30 15:07:10 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.