Phenotype #0000245873

Individual ID 00327618
Associated disease neuropathy, optic
Phenotype details Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 20y? (approximately 20 years)
Age/Diagnosis -
Age/Onset 05y
Phenotype/Onset -
Protein -
Owner name Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2021-01-25 10:49:26 +01:00 (CET)
Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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