Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000251558 Individual ID 00333371 Associated disease neuropathy, optic Phenotype details Moderately reduced visual acuity (HP:0030515); Tritanomaly (HP:0000552); Centrocecal scotoma (HP:0000576); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 01y-05y Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2021-02-25 11:03:52 +01:00 (CET) Date last edited 2021-02-26 08:43:24 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.