Global Variome shared LOVD

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

Phenotype #0000204147 Individual ID 00266378 Associated disease OPA1 Phenotype details Optic atrophy (HP:0000648); Delayed speech and language development (HP:0000750); Microcephaly (HP:0000252); Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Vision/Acuity OD 0.8 LogMAR;OS 0.8 LogMAR Vision/Colour - Vision/Field - Birth_Details - Eye/Optic_Disc - Eye/OCT - Brain/Imaging - MotorSkills - Vision/Abnormality - Hearing/Loss - Protein - Owner name Marc Ferre Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marc Ferre Date created 2019-10-25 09:31:11 +02:00 (CEST) Date last edited N/A

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