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infantile-onset generalized dyskinesia with orofacial involvement (IOLOD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile-onset generalized dyskinesia with orofacial involvement

MONDO:0044637

Also known as:IOLODdyskinesia, limb and orofacial, infantile-onsetinfantile-onset orofacial-trunk-limbs dyskinesia

Overview

GeneticsAutosomal recessive · PDE10A (chr 6)

ResearchLimited published research (7 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 very common findings: Orofacial dyskinesia; and common findings: Axial hypotonia, Feeding difficulties, Dysarthria, and Chorea and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Orofacial dyskinesia, Seizure, Dysarthria

Genetic Landscape

PDE10A function has not been fully characterized.

Infantile-onset generalized dyskinesia with orofacial involvement is associated with mutations in the PDE10A gene on chromosome 6.

Diagnosis

Genetic testing for PDE10A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 9 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 infantile-onset generalized dyskinesia with orofacial involvement.

8 publications have been identified in PubMed for infantile-onset generalized dyskinesia with orofacial involvement. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).

Recent Publications

Mohammad S (2026). [PMID: 42068099](https://pubmed.ncbi.nlm.nih.gov/42068099/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]
Denha SA (2025). [PMID: 40484375](https://pubmed.ncbi.nlm.nih.gov/40484375/). *J Biol Chem*. [Basic Science / Preclinical]
Gazeteci Tekin H (2025). [PMID: 38451541](https://pubmed.ncbi.nlm.nih.gov/38451541/). *Int J Neurosci*. [Case Report / Case Series]
Sen K (2025). [PMID: 39536593](https://pubmed.ncbi.nlm.nih.gov/39536593/). *Pediatr Neurol*. [Case Report / Case Series]
Iwanami N (2024). [PMID: 39055674](https://pubmed.ncbi.nlm.nih.gov/39055674/). *SAGE Open Med Case Rep*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616921

Orphanet

European rare disease database

Orphanet:494526

GARD

Genetic and Rare Diseases Info Center

GARD:17905

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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infantile-onset generalized dyskinesia with orofacial involvement

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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