Phenotype #0000300262

Individual ID 00408133
Associated disease -
Phenotype details age at 1st exam: 4y4m, refraction: +5.25; +5.75; best corrected visual acuity right/left eye: light perception / light perception; fundus changes: attenuated vessels, tapetoretinal degenerati
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite Leber congenital amaurosis
Age/Examination -
Age/Diagnosis -
Age/Onset <1y
Phenotype/Onset poor vision or no pursuit of objects, roving nystagmus
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-14 16:40:13 +02:00 (CEST)
Date last edited N/A

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