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Metadata
ID DOID:0080133
Name multiple mitochondrial dysfunctions syndrome 1
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.
https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/22077971, https://www.ncbi.nlm.nih.gov/pubmed/28470589, https://www.ncbi.nlm.nih.gov/pubmed/29441221, https://www.omim.org/entry/605711
Xrefs

GARD:12632

OMIM:605711

ORDO:401869

Subsets

DO_rare_slim

Synonyms

NFU1 deficiency [EXACT]

Parent Relationships

is_a multiple mitochondrial dysfunctions syndrome

is_a autosomal recessive disease

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