Phenotype #0000275377

Individual ID 00381527
Associated disease WS2E
Phenotype details Profound sensorineural hearing loss, Blue hypoplastic irides, Vestibular and semicircular canals dysplasia
(mainly lateral and posterior), poorly characterized
vestibular aqueduct.
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Karina Lezirovitz Mandelbaum
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Karina Lezirovitz Mandelbaum
Date created 2021-08-30 15:49:10 +02:00 (CEST)
Date last edited 2021-08-30 16:14:38 +02:00 (CEST)

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