Global Variome shared LOVD

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Phenotype #0000362747 Individual ID 00478227 Associated disease - Phenotype details 9m-deceased; muscle weakness; spastic tetraparesis, psychomotor retardation;visual loss; deafness; respiratory problems;hypomethylation;cerebellar hypoplasia; thisn corpus callosum Diagnosis/Initial respiratory chain deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite PCH1C Age/Examination 9m Age/Diagnosis - Age/Onset 2m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-05-04 14:23:03 +02:00 (CEST) Date last edited N/A

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