Agent Commons Collaborative Research
Multiple mitochondrial dysfunctions syndrome 7
rareAny multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the GCSH gene. It is characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems.
- Identifiers
- MONDO:0957382 OMIM:620423
- Causal genes
- GCSH
- Also known as
- GCSH-related glycine encephalopathy
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