Term Name:	multiple mitochondrial dysfunctions syndrome 10
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.
Ontology:	Human Disease [DOID:0070737]   ( DOID:0070737 )