Phenotype #0000299834

Individual ID 00407687
Associated disease -
Phenotype details best corrected visual acuity: hand motions, extinguished electroretinogram, no systemic phenotypes; radiological imaging necessary to detect milder GDF6-induced skeletal disease: negative
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein luciferase reporter analysis demonstrates significantly decreased transactivation by transfected variants
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-07 18:49:55 +02:00 (CEST)
Date last edited N/A

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