Phenotype #0000046405

Individual ID 00059913
Associated disease PHARC
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 19y (19 years)
Diagnosis/Definite -
Age/Diagnosis 6y
Age/Onset -
Phenotype/Onset -
Phenotype details 12y-pes cavus, sensory loss, absent tendon reflexes at upper and lower limbs; no sensorineural hearing loss
Hearing/Loss sensorineural
Protein -
Owner name Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli