Global Variome shared LOVD

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

Phenotype #0000039067 Individual ID 00052490 Associated disease RD Phenotype details retinal dystrophy; enophthalmos, nystagmus, clear lenses, minimal peripheral pigmentary changes, decreased foveal light reflexes, hyperopic full discs and mild hyperemia, minimal astigmatism, nonrecordable ERG Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - 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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