Phenotype #0000124160

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00151792
Associated disease	PHARC
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	sensory and motor neuropathy and ataxia
Age/Examination	15y (15 years)
Diagnosis/Definite	PHARC
Age/Diagnosis	36y
Age/Onset	15y
Phenotype/Onset	28y
Phenotype details	bilateral sensorineural deafness (HP 0008619), bilateral congenital cataract (HP 0000519)
Hearing/Loss	progressive
Protein	-
Owner name	Justine Lerat
Database submission license	No license selected
Created by	Justine Lerat
Date created	2018-01-21 18:42:50 +01:00 (CET)
Date last edited	2018-01-25 09:43:27 +01:00 (CET)

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