| Metadata | |
|---|---|
| ID | DOID:0070733 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070733 Copy |
| Name | multiple mitochondrial dysfunctions syndrome 7 |
| 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. https://pubmed.ncbi.nlm.nih.gov/36190515/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620423 exactMatch UMLS_CUI:C5830586 exactMatch GARD:0026818 |
| Subsets |
DO_rare_slim |
| Synonyms |
MMDS7 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |