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early-onset parkinsonism-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Slowness of movement (bradykinesia), Parkinsonism, Muscle stiffness (rigidity), and Parkinsonism with favorable response to dopaminergic medication; and very common findings: Resting tremor. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Poor speech, Resting tremor, Slowness of movement (bradykinesia)
Bones and joints	1	Postural instability
Head and neck	1	Macrocephaly

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 early-onset parkinsonism-intellectual disability syndrome.

141 publications have been identified in PubMed for early-onset parkinsonism-intellectual disability syndrome. Kisho has analyzed 84 by research type. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (26%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Research summaries	24	29%
Patient case studies	22	26%
Laboratory research	18	21%
Disease patterns and progression	12	14%
Testing and diagnosis research	5	6%
New treatment approaches	2	2%
Other research	1	1%

Recent Publications

Dudley AM (2026). [PMID: 41136202](https://pubmed.ncbi.nlm.nih.gov/41136202/). *Pract Neurol*. [Review / Meta-Analysis]
Pedullà G (2026). [PMID: 41722179](https://pubmed.ncbi.nlm.nih.gov/41722179/). *Parkinsonism Relat Disord*. [Case Report / Case Series]
Muhammad A (2026). [PMID: 42046183](https://pubmed.ncbi.nlm.nih.gov/42046183/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]
Millevert C (2026). [PMID: 40472023](https://pubmed.ncbi.nlm.nih.gov/40472023/). *Brain*. [Case Report / Case Series]
Caputo D (2026). [PMID: 41133379](https://pubmed.ncbi.nlm.nih.gov/41133379/). *Epilepsia*. [Epidemiology / Natural History]
Baldin S (2026). [PMID: 40847610](https://pubmed.ncbi.nlm.nih.gov/40847610/). *FEBS J*. [Basic Science / Preclinical]
Hoang HD (2026). [PMID: 41467504](https://pubmed.ncbi.nlm.nih.gov/41467504/). *Hum Mol Genet*. [Case Report / Case Series]
Zhang K (2026). [PMID: 41591480](https://pubmed.ncbi.nlm.nih.gov/41591480/). *Acta Diabetol*. [Case Report / Case Series]
Del Regno C (2026). [PMID: 41074240](https://pubmed.ncbi.nlm.nih.gov/41074240/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Akhila P (2026). [PMID: 41611321](https://pubmed.ncbi.nlm.nih.gov/41611321/). *BMJ Case Rep*. [Case Report / Case Series]

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early-onset parkinsonism-intellectual disability syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

early-onset parkinsonism-intellectual disability syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team