multiple mitochondrial dysfunctions syndrome 7

Term ID

DOID:0070733

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. https://pubmed.ncbi.nlm.nih.gov/36190515/

References

• GARD:0026818
• MIM:620423
• UMLS_CUI:C5830586

Ontology

Human Disease   ( DOID:0070733 )