Phenotype #0000124348

Individual ID	00151985
Associated disease	deafness
Phenotype details	post-lingual progressive bilateral hearing impairment, characterized by down-sloping audiometric profile, with moderate HL at low and middle frequencies and a severe hearing impairment at higher frequencies; neurological evaluation displayed sign and symptoms of mildly symptomatic peripheral neuropathy, with prevalent sensory involvement (i.e. Romberg positivity, absent deep tendon reflexes; showed chronic denervation at EMG evaluation, and mild axonal neuropathy affecting only motor nerves
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 12:53:06 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD