Global Variome shared LOVD

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Phenotype #0000307783 Individual ID 00416017 Associated disease - Phenotype details best-corrected Snellen visual acuity:20/200, 20/100; refraction:-8.25, -8.25; color vision: D-15: sat: no confusions; desat: multiple confusions, disturbed red/green axes, normal blue axes; photophobia: moderate; nystagmus: yes; rod electroretinogram: scotopic responses normal; cone electroretinogram: severely reduced cone electroretinogram and absent 30 Hz flicker response Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite incomplete achromatopsia Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-21 18:19:53 +02:00 (CEST) Date last edited N/A

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