Global Variome shared LOVD

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Phenotype #0000299143 Individual ID 00406692 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 Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-04 13:35:01 +02:00 (CEST) Date last edited N/A

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