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hypothyroidism, congenital, nongoitrous, 2 (CHNG2) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Hormones	6	Thyroid hypoplasia, Thyroid agenesis, Ectopic thyroid
Lab test results	3	Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration
Digestive system	3	Abdominal distention, Feeding difficulties in infancy, Constipation
Muscles	1	Low muscle tone (hypotonia)
Skin	1	Dry skin
Pregnancy and birth	1	Congenital hypothyroidism
Heart and blood vessels	1	Bradycardia
Bones and joints	1	Delayed skeletal maturation
Growth and development	1	Growth delay

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 hypothyroidism, congenital, nongoitrous, 2.

181 publications have been identified in PubMed for hypothyroidism, congenital, nongoitrous, 2. Research spans Review / Meta-Analysis (28%), Basic Science / Preclinical (21%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Research summaries	51	28%
Laboratory research	38	21%
Patient case studies	36	20%
Disease patterns and progression	23	13%
Clinical study results	18	10%
Testing and diagnosis research	7	4%
New treatment approaches	5	3%
Other research	3	2%

Recent Publications

Khatri A (2026). [PMID: 41611636](https://pubmed.ncbi.nlm.nih.gov/41611636/). *Clin Endocrinol (Oxf)*. [Basic Science / Preclinical]
Ma D (2026). [PMID: 42091195](https://pubmed.ncbi.nlm.nih.gov/42091195/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Rajiah PS (2026). [PMID: 41886301](https://pubmed.ncbi.nlm.nih.gov/41886301/). *Radiographics*. [Review / Meta-Analysis]
McHugh A (2026). [PMID: 41689623](https://pubmed.ncbi.nlm.nih.gov/41689623/). *Irish journal of medical science*. [Epidemiology / Natural History]
Portela Carvalho C (2026). [PMID: 41525162](https://pubmed.ncbi.nlm.nih.gov/41525162/). *Acta Med Port*. [Review / Meta-Analysis]
Bonardi CM (2026). [PMID: 41530147](https://pubmed.ncbi.nlm.nih.gov/41530147/). *Nat Commun*. [Basic Science / Preclinical]
Pham B (2026). [PMID: 41785017](https://pubmed.ncbi.nlm.nih.gov/41785017/). *Am J Physiol Lung Cell Mol Physiol*. [Basic Science / Preclinical]
Sasso E (2026). [PMID: 41691276](https://pubmed.ncbi.nlm.nih.gov/41691276/). *Int Breastfeed J*. [Case Report / Case Series]
Hwang S (2026). [PMID: 41152456](https://pubmed.ncbi.nlm.nih.gov/41152456/). *J Hum Genet*. [Basic Science / Preclinical]
Murotani T (2026). [PMID: 40388645](https://pubmed.ncbi.nlm.nih.gov/40388645/). *Cleft Palate Craniofac J*. [Case Report / Case Series]

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hypothyroidism, congenital, nongoitrous, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

hypothyroidism, congenital, nongoitrous, 2

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