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microcephaly 9, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 9, primary, autosomal recessive

MONDO:0013923

Also known as:CEP152 autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CEP152MCPH9

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.

GeneticsAutosomal recessive · CEP152 (chr 15)

OnsetINFANTILE

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: Impulsivity, Microcephaly, Aggressive behavior, and Self-injurious behavior and others; and common findings: Compulsive behaviors and Motor tics. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Aggressive behavior, Compulsive behaviors

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.

CEP152 encodes centrosomal protein 152 (1,710 aa). Necessary for centrosome duplication; the function also seems to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Highest expression in Cells EBV-transformed lymphocytes (17.6 TPM) and Testis (15.1 TPM).

Microcephaly 9, primary, autosomal recessive is associated with mutations in the CEP152 gene on chromosome 15.

CEP152 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CEP152 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 2 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 9, primary, autosomal recessive.

4 publications have been identified in PubMed for microcephaly 9, primary, autosomal recessive. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Singh N (2026). [PMID: 42257118](https://pubmed.ncbi.nlm.nih.gov/42257118/). *J Family Med Prim Care*. [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]
Erdogan M (2025). [PMID: 40243280](https://pubmed.ncbi.nlm.nih.gov/40243280/). *Am J Med Genet A*. [Review / Meta-Analysis]
Wang J (2024). [PMID: 39344621](https://pubmed.ncbi.nlm.nih.gov/39344621/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614852

GARD

Genetic and Rare Diseases Info Center

GARD:15855

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 9, 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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