Global Variome shared LOVD

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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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