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 InternationalCreative Commons License
Created by Marc Ferre
Date created 2019-10-25 09:31:11 +02:00 (CEST)
Date last edited N/A

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