Phenotype #0000046391

Individual ID 00059899
Associated disease PHARC
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 20y (20 years)
Diagnosis/Definite -
Age/Diagnosis 6y
Age/Onset -
Phenotype/Onset -
Phenotype details 4y-pes cavus, absent tendon reflexes; demyelinating polyneuropathy; 6y-sensorineural hearing loss; 2y-gait, limb, speech ataxia; 10y-wheelchair-bound; Cerebellar atrophy (age 3); Extensor plantar response; Retinitis Pigmentosa; cataract;
Hearing/Loss sensorineural
Protein -
Owner name Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli