Phenotype #0000046398

Individual ID 00059906
Associated disease PHARC
Inheritance Unknown
Diagnosis/Initial -
Age/Examination 36y (36 years)
Diagnosis/Definite -
Age/Diagnosis 10y
Age/Onset -
Phenotype/Onset -
Phenotype details pes cavus, normal sensibility, reduced tendon reflexes in lower limbs; demyelinating polyneuropathy; 10y-deaf; ataxia; Atrophy of vermis and medulla oblongata; Extensor plantar response at right side; spasticity; 36y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 32y-cataract
Hearing/Loss sensorineural
Protein -
Owner name Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli