Phenotype #0000046403

Individual ID	00059911
Associated disease	PHARC
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	26y (26 years)
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	pes cavus, sensory loss, reduced tendon reflexes at upper limbs/ absent at lower limbs ; severe demyelinating polyneuropathy; deaf; 4–9y-gait and limb ataxia, horizontal nystagmus, moderate dysarthria, dysmetria at upper and lower limbs ; Vermian atrophy; Extensor plantar response at lower limbs; tongue fasciculations; 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)

Global Variome shared LOVD