Global Variome shared LOVD

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Phenotype #0000310050 Individual ID 00418754 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Attenuation of retinal blood vessels (HP:0007843); Rod-cone dystrophy (HP:0000510); Retinal dystrophy (HP:0000556); Myopia (HP:0000545); Scoliosis (HP:0002650); Febrile convulsion (HP:0002373); Abnormality of visual evoked potentials (HP:0000649); Abnormal pattern electroretinogram (HP:0030467); Nystagmus (HP:0000639); Reduced visual acuity (HP:0007663); Global development delay (HP:0001263) Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-10-05 16:58:46 +02:00 (CEST) Date last edited 2024-09-15 07:56:35 +02:00 (CEST)

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