Global Variome shared LOVD

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Phenotype #0000309681 Individual ID 00418314 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Progressive visual loss (HP:0000529); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493); Abnormality of the kidney (HP:0000077) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 16y (16 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 2022-09-27 20:18:29 +02:00 (CEST) Date last edited 2024-09-09 17:27:44 +02:00 (CEST)

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