Phenotype #0000250573

Individual ID 00332387
Associated disease -
Phenotype details Roving nystagmus; atropic macula; oculodigital sign; ERG extinguished
Diagnosis/Initial Leber congenital amaurosis
Inheritance Familial, autosomal recessive
Diagnosis/Definite LCA
Age/Examination 0y9m (9 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-18 13:23:10 +01:00 (CET)
Date last edited N/A

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