Global Variome shared LOVD

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

Phenotype #0000028491 Individual ID 00037948 Associated disease LCA Phenotype details Night blindness, nystagmus, pale optic discs with mild prepapillary fibrosis, vascular attenuation without PPRPE, macular aplasia, several larger areas of subretinal white deposits and confluent nummular intraretinal pigmentation in periphery Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset ? Protein - Owner name Frans Cremers Database submission license Creative Commons Attribution 4.0 International Created by Frans Cremers Date created 2015-05-01 22:00:00 +02:00 (CEST) Date last edited N/A

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