Phenotype #0000254672

Individual ID 00359431
Associated disease neuropathy, optic
Phenotype details Ultra-low vision with no light perception (HP:0032287); Sudden loss of visual acuity (HP:0001117); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Marcus Gunn pupil (HP:0200057); Unilateral (HP:0012833)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset 15y
Phenotype/Onset -
Protein -
Owner name Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2021-03-22 11:33:29 +01:00 (CET)
Date last edited 2024-09-16 10:21:32 +02:00 (CEST)

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