Phenotype #0000298751

Individual ID 00406253
Associated disease -
Phenotype details -
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein normal protein expression levels and subcellular localization, but significantly reduced the catalytic activity of ROS-GC1
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-26 16:10:43 +01:00 (CET)
Date last edited 2022-03-26 17:26:41 +01:00 (CET)

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