Phenotype #0000300077

Individual ID 00407947
Associated disease -
Phenotype details best corrected visual acuity: hand motion with poor fixation; exotropia of approximately 20 delta, slight bilateral hypotropia, and inability to elevate either eye, including no Bell phenomenon; ductions otherwise full, no ptosis; fundus: retinal dystrophic changes; cycloplegic refraction both eyes: +0.75
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset poor vision since soon after birth
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-11 13:19:42 +02:00 (CEST)
Date last edited N/A

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