Global Variome shared LOVD

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

Phenotype #0000340218 Individual ID 00451543 Associated disease ? Diagnosis/Initial Leber congenital amaurosis Diagnosis/Definite ND Phenotype details no night vision; no perception light; no nystagmus; no corneal haze; no photophobia; mild intellectual disability, microcornea Inheritance Familial, X-linked recessive Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset <1y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Rabia Basharat Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-06-10 15:00:36 +02:00 (CEST) Date last edited N/A

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