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microcephaly, short stature, and impaired glucose metabolism 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly, short stature, and impaired glucose metabolism 1

MONDO:0000208

Also known as:MSSGM1MSSGMmicrocephaly, short stature, and impaired glucose metabolism

Overview

GeneticsAutosomal recessive · TRMT10A (chr 4)

OnsetCONGENITAL

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Microcephaly, Short stature, Seizure, and Global developmental delay and others; and common findings: Sideways curvature of the spine (scoliosis), Dorsocervical fat pad, Joint hypermobility, and Generalized non-motor (absence) seizure and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Generalized non-motor (absence) seizure, Global developmental delay

Genetic Landscape

TRMT10A function has not been fully characterized.

Microcephaly, short stature, and impaired glucose metabolism 1 is associated with mutations in the TRMT10A gene on chromosome 4.

Diagnosis

Genetic testing for TRMT10A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 11 common features.

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 microcephaly, short stature, and impaired glucose metabolism 1.

4 publications have been identified in PubMed for microcephaly, short stature, and impaired glucose metabolism 1. Research spans Review / Meta-Analysis (100%).

Recent Publications

Di Pasquale G (2025). [PMID: 40970566](https://pubmed.ncbi.nlm.nih.gov/40970566/). *Clin Genet*. [Review / Meta-Analysis]
Liang Y (2025). [PMID: 39260796](https://pubmed.ncbi.nlm.nih.gov/39260796/). *J Adv Res*. [Review / Meta-Analysis]
Rashad S (2025). [PMID: 40119534](https://pubmed.ncbi.nlm.nih.gov/40119534/). *Wiley Interdiscip Rev RNA*. [Review / Meta-Analysis]
Wu Z (2024). [PMID: 38943267](https://pubmed.ncbi.nlm.nih.gov/38943267/). *Cell Prolif*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616033

GARD

Genetic and Rare Diseases Info Center

GARD:18459

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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microcephaly, short stature, and impaired glucose metabolism 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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