nuclear type mitochondrial complex I deficiency 29

Term ID

DOID:0112084

Synonyms

MC1DN29

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. https://pubmed.ncbi.nlm.nih.gov/27374773/

References

OMIM:618250

Ontology

Human Disease ( DOID:0112084 )

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