nuclear type mitochondrial complex I deficiency 32

Term ID

DOID:0112080

Synonyms

MC1DN32

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. https://pubmed.ncbi.nlm.nih.gov/29429571/

References

OMIM:618252

Ontology

Human Disease ( DOID:0112080 )

Relationships

is a type of: autosomal recessive disease nuclear type mitochondrial complex I deficiency

autosomal recessive disease nuclear type mitochondrial complex I deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations