Phenotype #0000046394

Individual ID 00059902
Associated disease PHARC
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 56y (56 years)
Diagnosis/Definite -
Age/Diagnosis >30y<
Age/Onset -
Phenotype/Onset -
Phenotype details 37y-pes cavus from childhood; demyelinating polyneuropathy; 30-ies sensorineural hearing loss; 37y-gait ataxia; brain MR/CT normal; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 37y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 37y-cataract
Hearing/Loss sensorineural
Protein -
Owner name Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli