Phenotype #0000046406

Individual ID 00059914
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, absent tendon reflexes; severe demyelinating polyneuropathy on nerve biopsy; 6y-sensorineural hearing loss; 6–12y-gait and limb ataxia; brain MR/CT normal; Indifferent plantar response; no Retinitis Pigmentosa; no cataract;
Hearing/Loss -
Protein -
Owner name Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli