Phenotype #0000071838

Individual ID 00093447
Associated disease ATS
Phenotype details esophageal achalasia at 3y, microhaematuria at 4 y Progressive sensorineural hearing loss since 6y, hearing aids at 11y Diffuse esophageal leiomyomatosis at 9y Microhaematuria, proteinuria and moderately elevated creatinine levels at 19y No family history.; hearing loss
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 14:21:14 +01:00 (CET)

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