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mitochondrial complex I deficiency, nuclear type 31 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 31

MONDO:0032634

Also known as:MC1DN31

Overview

GeneticsAutosomal recessive · TIMMDC1 (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Global developmental delay, Low muscle tone (hypotonia), and Decreased activity of mitochondrial complex I; and common findings: Skeletal muscle atrophy, Dysmetria, Seizure, and Enlarged cisterna magna and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Global developmental delay, Peripheral neuropathy

Genetic Landscape

TIMMDC1 function has not been fully characterized.

Mitochondrial complex I deficiency, nuclear type 31 is associated with mutations in the TIMMDC1 gene on chromosome 3.

Diagnosis

Genetic testing for TIMMDC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 12 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618251

GARD

Genetic and Rare Diseases Info Center

GARD:16331

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mitochondrial complex I deficiency, nuclear type 31

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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