Phenotype #0000299755

Individual ID 00407586
Associated disease -
Phenotype details 4y: refraction (spherical equivalent): +6.75, electroretinogram: not detectable, renal disease: severe (by age 13 y); 23y: best corrected visual acuity right, left eye: 20/80, 20/200
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-06 19:14:38 +02:00 (CEST)
Date last edited N/A

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