Global Variome shared LOVD

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

Phenotype #0000230318 Individual ID 00303234 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details nystagmus; photophobia; no night blindness; visual acuity (RE) light perception, visual acuity (LE) light perception; temporal optic-disc pallor; no peripheral pigmentary migration; autistic behavior, poor language Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-08 17:02:49 +02:00 (CEST) Date last edited N/A

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