Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
Synonyms

MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
ID

http://purl.bioontology.org/ontology/OMIM/252010
altLabel

MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF

NADH-COENZYME Q REDUCTASE DEFICIENCY

NADH:Q(1) OXIDOREDUCTASE DEFICIENCY

MC1DN1

MITOCHONDRIAL COMPLEX I DEFICIENCY
cui

C1838979
Gene Locus

5q11.1
Gene Symbol

NDUFS4

AQDQ

MC1DN1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU042046

http://purl.bioontology.org/ontology/OMIM/MTHU011423

http://purl.bioontology.org/ontology/OMIM/MTHU032281

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU036657

http://purl.bioontology.org/ontology/OMIM/MTHU018978

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU000136

http://purl.bioontology.org/ontology/OMIM/MTHU000317

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU000628

http://purl.bioontology.org/ontology/OMIM/MTHU000695

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU037739

http://purl.bioontology.org/ontology/OMIM/MTHU032284

http://purl.bioontology.org/ontology/OMIM/MTHU007279

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU011421

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU018711

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU004739

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU003333

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU003349

http://purl.bioontology.org/ontology/OMIM/MTHU061504

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU000685

http://purl.bioontology.org/ontology/OMIM/MTHU061503

http://purl.bioontology.org/ontology/OMIM/MTHU032283

http://purl.bioontology.org/ontology/OMIM/MTHU000152

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU032282

http://purl.bioontology.org/ontology/OMIM/MTHU000730

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

312450
notation

252010
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
Scope Statement

Early death may occur [MISCELLANEOUS]

Onset in infancy [MISCELLANEOUS]

Caused by mutation in the NADH-ubiquinone oxidoreductase subunit S4 gene (NDUFS4, 602694.0001) [MOLECULAR BASIS]

Variable phenotype [MISCELLANEOUS]
tui

T047
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