Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

microcephaly-micromelia syndrome (MIMIS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-micromelia syndrome

MONDO:0009619

Also known as:MIMIS

Overview

GeneticsAutosomal recessive · DONSON (chr 21)

OnsetANTENATAL

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 always present findings: Microcephaly. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Craniosynostosis, Microcephaly
Lungs and breathing

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DONSON encodes DNA replication fork stabilization factor DONSON (566 aa). Replisome component that maintains genome stability by protecting stalled or damaged replication forks. Highest expression in Testis (45.2 TPM) and Ovary (32.0 TPM).

Microcephaly-micromelia syndrome is associated with mutations in the DONSON gene on chromosome 21.

DONSON is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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-micromelia syndrome.

2 publications have been identified in PubMed for microcephaly-micromelia syndrome. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clin Genet*. [Basic Science / Preclinical]
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:251230

Orphanet

European rare disease database

Orphanet:572768

GARD

Genetic and Rare Diseases Info Center

GARD:18011

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?

← Back to All Diseases

microcephaly-micromelia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features