Phenotype #0000046392

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00059900
Associated disease	PHARC
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	6y (6 years)
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	absent tendon reflexes; sensorineural hearing loss; speech and limb ataxia; Cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; cataract
Hearing/Loss	sensorineural
Protein	-
Owner name	Jacopo Celli
Database submission license
Created by	Jacopo Celli
Date created	2010-10-19 14:47:56 +02:00 (CEST)
Date last edited	2018-01-26 12:23:01 +01:00 (CET)

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