Phenotype #0000301657

Individual ID 00409540
Associated disease BLM
Phenotype details best corrected visual acuity: 0.4; electroretinogram , rod: severely reduced, cone: severely reduced
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination 58y (58 years)
Age/Diagnosis -
Age/Onset 30y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-10 12:05:14 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.