Phenotype #0000299136

Individual ID	00406685
Associated disease	-
Phenotype details	onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-04 13:35:01 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD