Global Variome shared LOVD

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

Phenotype #0000321492 Individual ID 00430771 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Ataxia (HP:0001251); Seizure (HP:0001250); Elevated brain lactate level by MRS (HP:0012707) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 24y (24 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 20:26:11 +01:00 (CET) Date last edited 2023-01-27 19:22:00 +01:00 (CET)

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