Phenotype #0000300209

Individual ID	00408081
Associated disease	-
Phenotype details	3 years old female child that was noticed at the age of 6 months to have wandering eyes. Fundoscopic examination showed bilateral retinal dystrophy consistent with the diagnosis of Leber congenital amaurosis. She also had speech delay and found to have unilateral left sided hearing loss. She had some distinctive facial features (deep-set eyes and triangular mouth). Her parents were cousins and she has two unaffected siblings.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis 3
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-13 19:19:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD