Global Variome shared LOVD

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

Phenotype #0000304107 Individual ID 00412091 Associated disease MC1DN31 Diagnosis/Initial - Diagnosis/Definite - Phenotype details (+) Intellectual disability,(+) Muscle weakness,(+) Hypoplasia of the corpus callosum,(+) Lactic acidosis,(+) Abnormal activity of mitochondrial respiratory chain Inheritance Unknown Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-06-21 16:37:11 +02:00 (CEST) Date last edited 2022-06-23 09:56:28 +02:00 (CEST)

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