Multiple mitochondrial dysfunctions syndrome type 2

Disease Export to PDF
Name:
Multiple mitochondrial dysfunctions syndrome type 2
Description:
A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy.
ORPHAcode:
401874
Synonyms:
BOLA3 deficiency
MMDS2
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14