Phenotype #0000246746

Individual ID 00080019
Associated disease deafness
Phenotype details congenital, profound sensorineural hearing loss, failed the neonatal hearing screening; BERA no responses; vestibular examination displayed excitable vestibules with normal responses right and unilateral weakness left vestibule; cochlear implantation left ear; CT scan no temporal bone abnormalities; ophthalmologic and renal examination no abnormalities; no signs night blindness
Diagnosis/Initial deafness
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2021-01-28 15:01:56 +01:00 (CET)
Date last edited N/A

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