Phenotype #0000071839

Individual ID 00093448
Associated disease ATS
Phenotype details bilateral cataract and progressive hearing loss. Hearing aids at 11y Dysphagia since childhood. Eosophageal leiomyoma, microhaematuria and proteinuria at 14y GBM pathology at 32y, also absent ?3(IV) and ?5(IV) expression and normal ?1(IV) expression. Normal renal function at 33y Sister diagnosed with Hirschprung disease. Mother had achalasia at 9y, and uterine leiomyomas.; hearing loss; ocular changes; 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 15:03:42 +01:00 (CET)

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