Phenotype #0000299773

Individual ID 00407608
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 20/200/20/200, refraction:+4/+4, kinetic visual field extent (V-4e) right/left eye: <1/<1, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 24
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 13y (13 years)
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 2022-04-06 20:53:36 +02:00 (CEST)
Date last edited N/A

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