mitochondrial complex V (ATP synthase) deficiency nuclear type 4A

Term ID

DOID:0070461

Synonyms

• MC5DN4A

Definition

A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. (2)

References

• OMIM:620358

Ontology

Human Disease   ( DOID:0070461 )