Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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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