Phenotype #0000307571

Individual ID 00415793
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: transient; photophobia; cone electroretinogram: no response; fundus: normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite complete achromatopsia
Age/Examination 8y (8 years)
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 2022-08-16 12:24:58 +02:00 (CEST)
Date last edited N/A

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