Global Variome shared LOVD

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Phenotype #0000321903 Individual ID 00431302 Associated disease ? Diagnosis/Initial infancy-onset recurrent metabolic crises, encephalocardiomyopathy Diagnosis/Definite MECRCN Phenotype details see paper; ..., >5 episodic metabolic/ncephalopathic crises; myopathy (weakness/rhabdomyolysis); cardiac arhythmia; elevted TSH; no opthalmologic anomalies; cognitive impairment (IQ 71); epilepsy; spasticity; brain atrophy; hypoglycemia; mildly elevated plasma lactate; hyperCKemia; ketonuria; mildly elevated acylcarnitines Inheritance Familial, autosomal recessive Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 03y 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 21:52:34 +01:00 (CET) Date last edited N/A

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