Phenotype #0000124338

Individual ID 00151975
Associated disease deafness
Phenotype details post-lingual progressive bilateral hearing impairment, characterized by down-sloping audiometric profile, with moderate HL at low and middle frequencie, severe hearing impairment at higher frequencies; neurological evaluation displayed sign and symptoms of peripheral neuropathy, with both sensory and motor deficits
Diagnosis/Initial sensorineural hearing loss
Inheritance Familial, X-linked recessive
Diagnosis/Definite DFNX-1
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein Reduced enzymatic activity
Owner name Giulia Soldà
Database submission license No license selected
Created by Giulia Soldà
Date created 2014-05-12 12:26:59 +02:00 (CEST)
Date last edited 2014-05-13 15:22:25 +02:00 (CEST)

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