Global Variome shared LOVD

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

Phenotype #0000242976 Individual ID 00324434 Associated disease OCA Diagnosis/Initial - Diagnosis/Definite - Phenotype details Reduced VA (0.85 logMAR), Nystagmus, anomalous head posture, grade 4 foveal hypoplasia, grade 4 transillumination defects of iris Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis 05y Age/Onset - Phenotype/Onset <6m Owner name Mervyn Thomas Database submission license No license selected Created by Mervyn Thomas Date created 2020-12-12 12:15:38 +01:00 (CET) Date last edited 2020-12-13 10:44:13 +01:00 (CET)

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