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multiple congenital anomalies-hypotonia-seizures syndrome 2 (DEE20) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	23	Encephalopathy, Exaggerated startle response, Focal clonic seizure
Muscles	8	Limb joint contracture, Shrinkage of the cerebellum (cerebellar atrophy), Cerebral cortical atrophy
Digestive system	6	Starry sky appearance on hepatic sonography, Hepatic steatosis, Hepatic failure
Head and neck	5	High, narrow palate, Decreased facial expression, Coarse facial features
Skin	4	Seborrheic dermatitis, Redundant neck skin, Psoriasiform dermatitis
Heart and blood vessels	4	Thickened left heart wall (left ventricular hypertrophy), Ventricular arrhythmia, Widened subarachnoid space
Lungs and breathing	4	Apnea, Aspiration pneumonia, Acute aspiration pneumonia
Bones and joints	3	Limb joint contracture, Abnormal joint morphology, Skeletal muscle atrophy
Arms and legs	3	Limb joint contracture, Tapered finger, Upper limb spasticity
Eyes	3	Cerebral visual impairment, Bilateral ptosis, Abnormal central area of the retina (abnormal macular morphology)
Growth and development	1	Short stature
Pregnancy and birth	1	Fetal distress
Ears	1	Hearing loss (hearing impairment)

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 multiple congenital anomalies-hypotonia-seizures syndrome 2.

29 publications have been identified in PubMed for multiple congenital anomalies-hypotonia-seizures syndrome 2. Research spans Review / Meta-Analysis (31%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Research summaries	9	31%
Disease patterns and progression	7	24%
Laboratory research	6	21%
Patient case studies	3	10%
Clinical study results	2	7%
New treatment approaches	2	7%

Recent Publications

Huang D (2026). [PMID: 41970642](https://pubmed.ncbi.nlm.nih.gov/41970642/). *Front Genet*. [Case Report / Case Series]
Zhou M (2026). [PMID: 41352325](https://pubmed.ncbi.nlm.nih.gov/41352325/). *Seizure*. [Basic Science / Preclinical]
Laux L (2026). [PMID: 41780062](https://pubmed.ncbi.nlm.nih.gov/41780062/). *N Engl J Med*. [Clinical Trial Publication]
GBD 2023 Disease and Injury and Risk Factor Collaborators (2025). [PMID: 41092926](https://pubmed.ncbi.nlm.nih.gov/41092926/). *Lancet*. [Epidemiology / Natural History]
GBD 2023 Demographics Collaborators (2025). [PMID: 41092927](https://pubmed.ncbi.nlm.nih.gov/41092927/). *Lancet*. [Epidemiology / Natural History]
Wagner M (2025). [PMID: 40263630](https://pubmed.ncbi.nlm.nih.gov/40263630/). *Nat Med*. [Case Report / Case Series]
GBD 2023 Causes of Death Collaborators (2025). [PMID: 41092928](https://pubmed.ncbi.nlm.nih.gov/41092928/). *Lancet*. [Epidemiology / Natural History]
Ji X (2025). [PMID: 40390087](https://pubmed.ncbi.nlm.nih.gov/40390087/). *BMC Med Genomics*. [Review / Meta-Analysis]
van Wegberg AMJ (2025). [PMID: 40378670](https://pubmed.ncbi.nlm.nih.gov/40378670/). *Mol Genet Metab*. [Review / Meta-Analysis]
Perulli M (2025). [PMID: 41165013](https://pubmed.ncbi.nlm.nih.gov/41165013/). *Epilepsia Open*. [Epidemiology / Natural History]

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multiple congenital anomalies-hypotonia-seizures syndrome 2

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

multiple congenital anomalies-hypotonia-seizures syndrome 2

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