Global Variome shared LOVD

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Phenotype #0000321904 Individual ID 00431303 Associated disease ? Diagnosis/Initial infancy-onset recurrent metabolic crises, encephalocardiomyopathy Diagnosis/Definite MECRCN Phenotype details see paper; ..., developmental delay; 4 episodic metabolic/ncephalopathic crises; myopathy (weakness/rhabdomyolysis); cardiac arhythmia; elevted TSH; optic atrophy; cognitive impairment; epilepsy; spasticity; brain atrophy; hypoglycemia; elevated plasma lactate; hyperCKemia; ketonuria; elevated acylcarnitines; elevated dicarboxylic acids Inheritance Familial, autosomal recessive Age/Examination 12t6m Age/Diagnosis - Age/Onset 00y05m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-07 21:57:03 +01:00 (CET) Date last edited N/A

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