Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Name: |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
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Description: |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
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ORPHAcode: |
254898
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Synonyms: |
Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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