Global Variome shared LOVD

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

Phenotype #0000321493 Individual ID 00430772 Associated disease neuropathy, optic Phenotype details Global developmental delay (HP:0001263); Seizure (HP:0001250); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced brain lactate level by MRS (HP:0025046) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2023-01-23 20:29:14 +01:00 (CET) Date last edited 2023-01-27 19:22:09 +01:00 (CET)

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