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microcephaly 13, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 13, primary, autosomal recessive

MONDO:0014473

Also known as:CENPE autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CENPEMCPH13

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.

GeneticsAutosomal recessive · CENPE (chr 4)

OnsetINFANTILE, CONGENITAL

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, Sloping forehead, Short foot, and Short stature and others; and common findings: Cerebellar hypoplasia, Nystagmus, Subglottic stenosis, and Tonic seizure and others.

Organ System	Phenotype Count	Example Features
Head and neck	3	Microcephaly, Primary microcephaly, Round face

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.

CENPE encodes centromere protein E (2,701 aa). Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Highest expression in Cells EBV-transformed lymphocytes (23.1 TPM) and Cells Cultured fibroblasts (8.8 TPM).

Microcephaly 13, primary, autosomal recessive is associated with mutations in the CENPE gene on chromosome 4.

CENPE is classified as a druggable target (Kinase category) with score 17.4.

Diagnosis

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

Prognosis

Phenotype severity distribution: 9 always present features, 12 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 13, primary, autosomal recessive.

4 publications have been identified in PubMed for microcephaly 13, primary, autosomal recessive. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Yasar D (2025). [PMID: 39953892](https://pubmed.ncbi.nlm.nih.gov/39953892/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Case Report / Case Series]
Wang J (2024). [PMID: 39344621](https://pubmed.ncbi.nlm.nih.gov/39344621/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Bouchenafa R (2024). [PMID: 38646780](https://pubmed.ncbi.nlm.nih.gov/38646780/). *Am J Physiol Cell Physiol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616051

GARD

Genetic and Rare Diseases Info Center

GARD:16054

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 13, primary, autosomal recessive

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

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