Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000039395 Individual ID 00052818 Associated disease LCA Phenotype details Leber congenital amaurosis; numerous yellowish spots in the outer layer of the retina, nystagmus, severe rod-cone dystrophy, night blindness, non-recordable ERG Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset nystagmus, night blindness Protein - Owner name Muhammad Ajmal Database submission license No license selected Created by Muhammad Ajmal Date created 2015-10-26 17:05:36 +01:00 (CET) Date last edited N/A

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