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

MIM:615228

Ontology

Human Disease ( DOID:0070462 )

Relationships

is a type of: autosomal recessive disease mitochondrial complex V (ATP synthase) deficiency nuclear type 4

autosomal recessive disease mitochondrial complex V (ATP synthase) deficiency nuclear type 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models