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GTR Home > Conditions/Phenotypes > Multiple mitochondrial dysfunctions syndrome 7

Multiple mitochondrial dysfunctions syndrome 7

Summary

Mitochondrial dysfunctions syndrome-7 (MMDS7) is an autosomal recessive disorder 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 (Arribas-Carreira et al., 2023). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GCE, MMDS7, NKH, GCSH
    Summary: glycine cleavage system protein H

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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