Phenotype #0000046390

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00059898
Associated disease	PHARC
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	24y (24 years)
Diagnosis/Definite	-
Age/Diagnosis	14y
Age/Onset	-
Phenotype/Onset	-
Phenotype details	pec cavus from childhood, absent tendon reflexes; abnormal neurography and EMG ; 14y-deaf; mild ataxia; brain MR/CT normal; Indifferent plantar response; 20-ies Retinitis Pigmentosa; 15y-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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