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growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Mild intellectual disability, Delayed speech and language development, Delayed fine motor development
Muscles	2	Skeletal muscle atrophy, Low muscle tone (hypotonia)
Lab test results	2	Increased circulating lactate concentration, Decreased activity of mitochondrial complex I
Blood and immune system	2	Macrocytic anemia, Hypersegmentation of neutrophil nuclei
Bones and joints	1	Skeletal muscle atrophy
Eyes	1	Visual impairment
Growth and development	1	Intrauterine growth retardation

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 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome.

18 publications have been identified in PubMed for growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome. Research spans Basic Science / Preclinical (61%), Case Report / Case Series (17%), and Other (6%).

Research Type	Count	% of Total
Laboratory research	11	61%
Patient case studies	3	17%
Other research	1	6%
Testing and diagnosis research	1	6%
Clinical study results	1	6%
Disease patterns and progression	1	6%

Recent Publications

Gao K (2026). [PMID: 41526984](https://pubmed.ncbi.nlm.nih.gov/41526984/). *Cell Biosci*. [Basic Science / Preclinical]
Rider P (2026). [PMID: 41508119](https://pubmed.ncbi.nlm.nih.gov/41508119/). *J Exp Clin Cancer Res*. [Basic Science / Preclinical]
D'Amato G (2026). [PMID: 41635899](https://pubmed.ncbi.nlm.nih.gov/41635899/). *Case Rep Genet*. [Basic Science / Preclinical]
Keser M (2026). [PMID: 40352449](https://pubmed.ncbi.nlm.nih.gov/40352449/). *Mol Syndromol*. [Basic Science / Preclinical]
Lin KY (2026). [PMID: 42009009](https://pubmed.ncbi.nlm.nih.gov/42009009/). *Lancet Neurol*. [Clinical Trial Publication]
Chen YL (2025). [PMID: 40025060](https://pubmed.ncbi.nlm.nih.gov/40025060/). *Cell Death Discov*. [Basic Science / Preclinical]
Proust A (2025). [PMID: 40420159](https://pubmed.ncbi.nlm.nih.gov/40420159/). *J Neuroinflammation*. [Basic Science / Preclinical]
Distelmaier F (2025). [PMID: 40929079](https://pubmed.ncbi.nlm.nih.gov/40929079/). *Brain*. [Basic Science / Preclinical]
Goto M (2025). [PMID: 39612554](https://pubmed.ncbi.nlm.nih.gov/39612554/). *Placenta*. [Diagnostic / Biomarker]
Prasun P (2025). [PMID: 39937392](https://pubmed.ncbi.nlm.nih.gov/39937392/). *Stem Cell Rev Rep*. [Other]

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growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications