Phenotype #0000300273

Individual ID 00408144
Associated disease -
Phenotype details nystagmus and vision limited to light perception since early childhood;26y fundus: moderate vascular attenuation and no intraretinal bone-spicule pigmentary deposits
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-14 18:55:23 +02:00 (CEST)
Date last edited N/A

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