| Term Name: | multiple mitochondrial dysfunctions syndrome 7 |
|---|---|
| Synonyms: | MMDS7 |
| Definition: | A multiple mitochondrial dysfunctions syndrome 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 that has_material_basis_in homozygous or compound heterozygous mutation in the GCSH gene on chromosome 16q23. |
| Ontology: | Human Disease [DOID:0070733] ( DOID:0070733 ) |