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neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Global developmental delay, Ataxia
Head and neck	2	Long face, Thin upper lip vermilion
Muscles	2	Shrinkage of the cerebellum (cerebellar atrophy), Generalized hypotonia
Lab test results	2	Elevated circulating alkaline phosphatase concentration, Decreased circulating alkaline phosphatase activity

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 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures.

206 publications have been identified in PubMed for neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures. Kisho has analyzed 138 by research type. Research spans Review / Meta-Analysis (26%), Other (22%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	36	26%
Other research	31	22%
Laboratory research	27	20%
Disease patterns and progression	22	16%
Patient case studies	8	6%
Clinical study results	8	6%
Testing and diagnosis research	5	4%
New treatment approaches	1	1%

Recent Publications

Hackett AN (2026). [PMID: 41166783](https://pubmed.ncbi.nlm.nih.gov/41166783/). *Pediatr Neurol*. [Diagnostic / Biomarker]
Marzuillo P (2026). [PMID: 42171793](https://pubmed.ncbi.nlm.nih.gov/42171793/). *Eur J Pediatr*. [Epidemiology / Natural History]
Thaele A (2026). [PMID: 42066537](https://pubmed.ncbi.nlm.nih.gov/42066537/). *Seizure*. [Diagnostic / Biomarker]
Fathimath M (2026). [PMID: 41617510](https://pubmed.ncbi.nlm.nih.gov/41617510/). *Med J Malaysia*. [Epidemiology / Natural History]
Ozcan U (2026). [PMID: 41423247](https://pubmed.ncbi.nlm.nih.gov/41423247/). *J Vet Med Sci*. [Case Report / Case Series]
Lateef S (2026). [PMID: 41836309](https://pubmed.ncbi.nlm.nih.gov/41836309/). *Case Rep Neurol*. [Case Report / Case Series]
Yao D (2026). [PMID: 42208570](https://pubmed.ncbi.nlm.nih.gov/42208570/). *Biomed Phys Eng Express*. [Basic Science / Preclinical]
Ye E (2026). [PMID: 41526775](https://pubmed.ncbi.nlm.nih.gov/41526775/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Shao Y (2026). [PMID: 41262005](https://pubmed.ncbi.nlm.nih.gov/41262005/). *Adv Sci (Weinh)*. [Other]
Vossler DG (2026). [PMID: 42066484](https://pubmed.ncbi.nlm.nih.gov/42066484/). *Seizure*. [Review / Meta-Analysis]

Kisho

neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications