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microcephaly 12, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 12, primary, autosomal recessive

MONDO:0014484

Also known as:CDK6 autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CDK6MCPH12

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.

GeneticsAutosomal recessive · CDK6 (chr 7)

ResearchLimited published research (6 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, Mild intellectual disability, Primary microcephaly, and Simplified gyral pattern. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Mild intellectual disability, Seizure

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.

CDK6 encodes cyclin dependent kinase 6 (326 aa). Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Highest expression in Cells EBV-transformed lymphocytes (32.3 TPM) and Cells Cultured fibroblasts (19.7 TPM).

Microcephaly 12, primary, autosomal recessive is associated with mutations in the CDK6 gene on chromosome 7.

The CDK6 protein participates in CDK6 inhibitors bind CDK6, p16INK4A mutants do not bind CDK4,CDK6, and Association of INK4 family proteins with CDK4/6 pathways.

CDK6 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Tumor Suppressor categories) with score 3.1.

Diagnosis

Genetic testing for CDK6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 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 12, primary, autosomal recessive.

6 publications have been identified in PubMed for microcephaly 12, primary, autosomal recessive. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).

Recent Publications

Verdu Schlie A (2025). [PMID: 40210435](https://pubmed.ncbi.nlm.nih.gov/40210435/). *Genes Dev*. [Basic Science / Preclinical]
Khan MA (2025). [PMID: 40801391](https://pubmed.ncbi.nlm.nih.gov/40801391/). *J Genet*. [Basic Science / Preclinical]
Yoon JG (2025). [PMID: 40770811](https://pubmed.ncbi.nlm.nih.gov/40770811/). *Genome Med*. [Basic Science / Preclinical]
Paracha SA (2024). [PMID: 39281811](https://pubmed.ncbi.nlm.nih.gov/39281811/). *Front Med (Lausanne)*. [Epidemiology / Natural History]
Jiang C (2024). [PMID: 39698004](https://pubmed.ncbi.nlm.nih.gov/39698004/). *Clin Case Rep*. [Case Report / Case Series]

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:616080

GARD

Genetic and Rare Diseases Info Center

GARD:16057

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 12, 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

Questions for Your Care Team

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