Phenotype #0000321902

Individual ID 00431301
Associated disease ?
Diagnosis/Initial infancy-onset recurrent metabolic crises, encephalocardiomyopathy
Diagnosis/Definite MECRCN
Phenotype details rhabdomyolysis); cardiac arhythmia; elevted TSH; no opthalmologic anomalies; cognitive impairment; epilepsy; spasticity; brain atrophy; hypoglycemia; elevated plasma lactate; hyperCKemia; ketonuria; elevated acylcarnitines; elevated dicarboxylic acids
Inheritance Familial, autosomal recessive
Age/Examination 03y03m (3 years, 3 months)
Age/Diagnosis -
Age/Onset 02y06m
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-02-07 21:31:41 +01:00 (CET)
Date last edited N/A

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