Phenotype #0000046407

Individual ID 00059915
Associated disease PHARC
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 32y (32 years)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details pes cavus, sensory loss and absent tendon reflexes at lower limbs; axonal polyneuropathy; sensorineural hearing loss; 16–20y-gait ataxia, dysarthria, dysmetria at upper limbs; Cerebellar atrophy; Extensor plantar response at lower limbs; decreased visual acuity and amblyopia; no cataract
Hearing/Loss sensorineural
Protein -
Owner name Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli