Phenotype #0000124160

Individual ID 00151792
Associated disease PHARC
Inheritance Familial, autosomal recessive
Diagnosis/Initial sensory and motor neuropathy and ataxia
Age/Examination 15y (15 years)
Diagnosis/Definite PHARC
Age/Diagnosis 36y
Age/Onset 15y
Phenotype/Onset 28y
Phenotype details bilateral sensorineural deafness (HP 0008619), bilateral congenital cataract (HP 0000519)
Hearing/Loss progressive
Protein -
Owner name Justine Lerat
Database submission license No license selected
Created by Justine Lerat