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

Term ID

DOID:0070462

Synonyms

• MC5DN4B

Definition

A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. https://pubmed.ncbi.nlm.nih.gov/23599390/

References

• OMIM:615228

Ontology

Human Disease   ( DOID:0070462 )