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intellectual disability, autosomal dominant 22 (MRD22) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Seizure, Generalized non-motor (absence) seizure, Severe intellectual disability
Growth and development	4	Short stature, Proportionate short stature, Intrauterine growth retardation
Head and neck	3	Thin upper lip vermilion, Round face, Microcephaly
Muscles	2	Low muscle tone (hypotonia), Generalized hypotonia
Digestive system	2	Gastroesophageal reflux, Feeding difficulties
Pregnancy and birth	1	Fetal pyelectasis
Arms and legs	1	Stereotypical hand wringing

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 intellectual disability, autosomal dominant 22.

24 publications have been identified in PubMed for intellectual disability, autosomal dominant 22. Research spans Case Report / Case Series (30%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (22%).

Research Type	Count	% of Total
Patient case studies	7	30%
Research summaries	6	26%
Laboratory research	5	22%
Disease patterns and progression	3	13%
Testing and diagnosis research	1	4%
Clinical study results	1	4%

Recent Publications

Wu Y (2026). [PMID: 42183389](https://pubmed.ncbi.nlm.nih.gov/42183389/). *Int J Pediatr*. [Case Report / Case Series]
Musante L (2026). [PMID: 41709284](https://pubmed.ncbi.nlm.nih.gov/41709284/). *Genome medicine*. [Basic Science / Preclinical]
Kumar S (2026). [PMID: 41576029](https://pubmed.ncbi.nlm.nih.gov/41576029/). *PLoS Genet*. [Basic Science / Preclinical]
Kennedy JT (2026). [PMID: 41549404](https://pubmed.ncbi.nlm.nih.gov/41549404/). *Alzheimer's & dementia : the journal of the Alzheimer's Association*. [Diagnostic / Biomarker]
Harripaul R (2026). [PMID: 41865132](https://pubmed.ncbi.nlm.nih.gov/41865132/). *Sci Rep*. [Basic Science / Preclinical]
Ates K (2026). [PMID: 42204957](https://pubmed.ncbi.nlm.nih.gov/42204957/). *Dev Neurobiol*. [Review / Meta-Analysis]
He Y (2026). [PMID: 41574619](https://pubmed.ncbi.nlm.nih.gov/41574619/). *Int J Dev Neurosci*. [Case Report / Case Series]
Mammadova N (2026). [PMID: 42053849](https://pubmed.ncbi.nlm.nih.gov/42053849/). *Mol Biol Rep*. [Case Report / Case Series]
Moses RG (2025). [PMID: 40519070](https://pubmed.ncbi.nlm.nih.gov/40519070/). *American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics*. [Basic Science / Preclinical]
Yeter B (2025). [PMID: 40742416](https://pubmed.ncbi.nlm.nih.gov/40742416/). *European journal of pediatrics*. [Case Report / Case Series]

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intellectual disability, autosomal dominant 22

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

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OMIM

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intellectual disability, autosomal dominant 22

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team