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neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

MONDO:0014562

Also known as:COQ4-related neonatal encephalomyopathycoenzyme Q10 deficiency, primary, type 7COQ10D7

Overview

GeneticsAutosomal recessive · COQ4 (chr 9)

ResearchLimited published research (6 articles)

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: Epicanthus, Moderate intellectual disability, Dystonia, and Focal impaired awareness seizure and others; and very common findings: Increased circulating lactate concentration and Difficulty swallowing (dysphagia). 58 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	17	Bilateral tonic-clonic seizure, Moderate intellectual disability, Dystonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COQ4 encodes coenzyme Q4 (265 aa). Lyase that catalyzes the C1-decarboxylation of 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid into 2-methoxy-6-(all-trans-decaprenyl)phenol during ubiquinone biosynthesis Highest expression in Thyroid (68.3 TPM) and Pituitary (61.1 TPM).

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome is associated with mutations in the COQ4 gene on chromosome 9.

The COQ4 protein participates in COQ4 decarboxylates MHDB, Unknown enzyme hydroxylates DMPhOH, and Ubiquinol biosynthesis pathways.

COQ4 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for COQ4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 19 always present features, 2 very common features, 26 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome.

6 publications have been identified in PubMed for neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

Reddy SB (2026). [PMID: 41992454](https://pubmed.ncbi.nlm.nih.gov/41992454/). *Ann Afr Med*. [Case Report / Case Series]
Srinivasan VM (2026). [PMID: 42087660](https://pubmed.ncbi.nlm.nih.gov/42087660/). *Neurol India*. [Gene Therapy / Novel Therapeutics]
Adorisio R (2025). [PMID: 40678571](https://pubmed.ncbi.nlm.nih.gov/40678571/). *Front Cardiovasc Med*. [Review / Meta-Analysis]
Wang M (2025). [PMID: 40645015](https://pubmed.ncbi.nlm.nih.gov/40645015/). *Stem Cell Res*. [Basic Science / Preclinical]
Donis R (2025). [PMID: 40062559](https://pubmed.ncbi.nlm.nih.gov/40062559/). *J Diabetes Investig*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 12:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616276

Orphanet

European rare disease database

Orphanet:457185

GARD

Genetic and Rare Diseases Info Center

GARD:17796

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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neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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