Phenotype #0000124337

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00151974
Associated disease	deafness
Phenotype details	post-lingual, bilateral, progressive deafness, normal speech development, received bilateral cochlear implants
Diagnosis/Initial	nonsyndromic 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 11:20:19 +02:00 (CEST)
Date last edited	2014-05-12 12:28:41 +02:00 (CEST)

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