Global Variome shared LOVD

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

Phenotype #0000300167 Individual ID 00408037 Associated disease - Phenotype details best corrected visual acuity: 6 yr: right eye: 20/80; left eye: 20/ 80, Goldmann perimetry: mild constriction (I4e 20deg, V4e full), fundus: macular atrophy, peripheral bone spicules, attenuated vesselsnot available, optical coherence tomography: not available, electroretinography: rod response nd; 30 hz cone flicker < 5 mcv Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early-onset severe retinal dystrophy Age/Examination - Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-12 13:04:16 +02:00 (CEST) Date last edited N/A

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