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microcephaly 3, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 3, primary, autosomal recessive

MONDO:0011488

Also known as:CDK5RAP2 autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CDK5RAP2MCPH3

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.

GeneticsAutosomal recessive · CDK5RAP2 (chr 9)

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: Sloping forehead, Moderate intellectual disability, Short stature, and Global developmental delay and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Moderate intellectual disability, Small cerebral cortex, Global developmental delay

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.

CDK5RAP2 encodes CDK5 regulatory subunit associated protein 2 (1,893 aa). Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Highest expression in Artery Aorta (40.9 TPM) and Testis (39.6 TPM).

Microcephaly 3, primary, autosomal recessive is associated with mutations in the CDK5RAP2 gene on chromosome 9.

CDK5RAP2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for CDK5RAP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present 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 3, primary, autosomal recessive.

4 publications have been identified in PubMed for microcephaly 3, primary, autosomal recessive. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Albokhari D (2026). [PMID: 42079399](https://pubmed.ncbi.nlm.nih.gov/42079399/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Yeter B (2025). [PMID: 41153337](https://pubmed.ncbi.nlm.nih.gov/41153337/). *Genes (Basel)*. [Basic Science / Preclinical]
Erdogan M (2025). [PMID: 40243280](https://pubmed.ncbi.nlm.nih.gov/40243280/). *Am J Med Genet A*. [Review / Meta-Analysis]
Kang D (2024). [PMID: 39569992](https://pubmed.ncbi.nlm.nih.gov/39569992/). *FASEB J*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604804

GARD

Genetic and Rare Diseases Info Center

GARD:15373

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 3, 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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