Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000307035 Individual ID 00415237 Associated disease - Phenotype details whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset severe photophobia, nystagmus and absence of color discrimination from early childhood Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-10 13:56:32 +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.