multiple mitochondrial dysfunctions syndrome 1

Term ID

DOID:0080133

Synonyms

• NFU1 deficiency

Definition

A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. (5)

References

• GARD:12632
• OMIM:605711
• ORDO:401869

Ontology

Human Disease   ( DOID:0080133 )