Global Variome shared LOVD

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Phenotype #0000310085 Individual ID 00418788 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Type 2 diabetes mellitus (HP:0005978); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Visual field defect (HP:0001123); Abnormality of ocular abduction (HP:0011347); Abnormal electroretinogram (HP:0000512); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 71y (71 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-10-07 09:14:11 +02:00 (CEST) Date last edited 2024-09-09 17:28:30 +02:00 (CEST)

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