Phenotype #0000291756

Individual ID 00398674
Associated disease -
Phenotype details visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 307; dark adapted mixed rod-cone (average): a: 192/b: 467, light adapted 30Hz cone flicker: nondetectabl
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 22y (22 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 2022-01-10 12:03:07 +01:00 (CET)
Date last edited N/A

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