multiple mitochondrial dysfunctions syndrome 10

Term ID

DOID:0070737

Synonyms

• MMDS10

Definition

A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/38950322/

References

• GARD:0027319
• MIM:620960
• ORDO:727296
• UMLS_CUI:C5975413

Ontology

Human Disease   ( DOID:0070737 )