Phenotype #0000071771

Individual ID 00093380
Associated disease ATS
Phenotype details haematuria, proteinuria and early sensorineural hearing loss; 6y; both Mother and index patient heterzygous for MYH9 c.4952T>C mutation. MYH9 mutation accounts for the inner ear deafness in the mother. Father hemizygous for the COL4A5 mutation, haematuria since birth, developed ESRD at 12y; sensorineural high-tone hearing loss and lesions of the cornea at 6 y, GBM pathology at 9 y; hearing loss; 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 N/A

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.