Phenotype #0000046390

Individual ID 00059898
Associated disease PHARC
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 24y (24 years)
Diagnosis/Definite -
Age/Diagnosis 14y
Age/Onset -
Phenotype/Onset -
Phenotype details pec cavus from childhood, absent tendon reflexes; abnormal neurography and EMG ; 14y-deaf; mild ataxia; brain MR/CT normal; Indifferent plantar response; 20-ies Retinitis Pigmentosa; 15y-cataract;
Hearing/Loss sensorineural
Protein -
Owner name Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli