Phenotype #0000281765

Individual ID 00388172
Associated disease -
Phenotype details Nystagmus: Left upward beating jerk, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Macular coloboma like degeneration , ERG: Extinguished
Diagnosis/Initial Leber congenital amaurosis
Inheritance Unknown
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 10m
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 2021-11-02 11:59:44 +01:00 (CET)
Date last edited N/A

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