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microcephaly, short stature, and impaired glucose metabolism 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly, short stature, and impaired glucose metabolism 2

MONDO:0014785

Also known as:MSSGM2PPP1R15B microcephaly, short stature, and impaired glucose metabolismmicrocephaly, short stature, and impaired glucose metabolism 2; MSSGM2

Overview

Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.

GeneticsAutosomal recessive · PPP1R15B (chr 1)

ResearchLimited published research (2 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 sometimes findings: Epicanthus, Renal hypoplasia, Hypoplasia of the brainstem, and Narrow mouth and others. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Hypoplasia of the brainstem, Seizure, Gait ataxia

Genetic Landscape

PPP1R15B function has not been fully characterized.

Microcephaly, short stature, and impaired glucose metabolism 2 is associated with mutations in the PPP1R15B gene on chromosome 1.

Diagnosis

Genetic testing for PPP1R15B is available. Testing is considered confirmatory for diagnosis.

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 2.

2 publications have been identified in PubMed for microcephaly, short stature, and impaired glucose metabolism 2. Research spans Review / Meta-Analysis (100%).

Recent Publications

Gobble MRS (2025). [PMID: 40128490](https://pubmed.ncbi.nlm.nih.gov/40128490/). *Curr Diab Rep*. [Review / Meta-Analysis]
Di Pasquale G (2025). [PMID: 40970566](https://pubmed.ncbi.nlm.nih.gov/40970566/). *Clin Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616817

GARD

Genetic and Rare Diseases Info Center

GARD:18460

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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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