Global Variome shared LOVD

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

Phenotype #0000307349 Individual ID 00415569 Associated disease - Phenotype details Refractive error: OD(-12.00?-2.00x7) - OS(-11.00?-2.00x150); VA: OD(1.78*) - OS(0.80*); nystagmus Diagnosis/Initial congenital stationary night blindness (CSNB) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 58y (58 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-08-15 15:41:08 +02:00 (CEST) Date last edited N/A

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