Global Variome shared LOVD

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Phenotype #0000299279 Individual ID 00406829 Associated disease - Phenotype details no photophobia, no night blindness, visual acuity: 20/200, refraction in DS.: -7, electroretinogram: no photopic or scotopic response, non-progressive, nerve deafness (infancy); depigmented skin lesions; primary amenorrhea, coloboma-like macula, disc pallor, varied pigment mottling of retina Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset 7y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-05 14:08:57 +02:00 (CEST) Date last edited N/A

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