Cardioencephalopathy with hyperammonaemia (Q101729)
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Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is an oxidative phosphorylation disease characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_787034237 |
||
| English | Cardioencephalopathy with hyperammonaemia |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is an oxidative phosphorylation disease characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. |
Statements
CID11:ID_787034237
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dki-india-ID_787034237
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