Global Variome shared LOVD

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

Phenotype #0000321495 Individual ID 00430774 Associated disease neuropathy, optic Phenotype details Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Elevated brain lactate level by MRS (HP:0012707) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 18y (18 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 20:35:14 +01:00 (CET) Date last edited 2023-01-27 19:22:44 +01:00 (CET)

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