Global Variome shared LOVD

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

Phenotype #0000275817 Individual ID 00381975 Associated disease - Phenotype details visual acuity : od: 0.06, os: 0.06; fundus: atrophic fovea, heavy rpe granularity, and pigmentary disruption; color vision: severely impaired; electroretinography: scotopic: below normal , photopic: 30 hz flicker dimished to extinct; photophobia: yes; nystagmus : yes; progression: yes Diagnosis/Initial incomplete achromatopsia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 57y (57 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 2021-09-06 15:38:00 +02:00 (CEST) Date last edited N/A

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