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microcephaly 8, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 8, primary, autosomal recessive

MONDO:0013849

Also known as:CEP135 autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CEP135MCPH8

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.

GeneticsAutosomal recessive · CEP135 (chr 4)

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, Primary microcephaly, and Severe intellectual disability. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Primary microcephaly
Brain and nerves

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.

CEP135 encodes centrosomal protein 135 (1,140 aa). Centrosomal microtubule-binding protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Highest expression in Uterus (10.5 TPM) and Testis (10.3 TPM).

Microcephaly 8, primary, autosomal recessive is associated with mutations in the CEP135 gene on chromosome 4.

CEP135 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CEP135 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcephaly 8, primary, autosomal recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 8, primary, autosomal recessive.

6 publications have been identified in PubMed for microcephaly 8, primary, autosomal recessive. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Hashmi HB (2025). [PMID: 41452392](https://pubmed.ncbi.nlm.nih.gov/41452392/). *Neurogenetics*. [Diagnostic / Biomarker]
Farooq S (2025). [PMID: 41555927](https://pubmed.ncbi.nlm.nih.gov/41555927/). *Frontiers in genetics*. [Basic Science / Preclinical]
Khan MA (2025). [PMID: 40801391](https://pubmed.ncbi.nlm.nih.gov/40801391/). *Journal of genetics*. [Basic Science / Preclinical]
Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotrophic lateral sclerosis & frontotemporal degeneration*. [Case Report / Case Series]
Ferreira A (2024). [PMID: 39490209](https://pubmed.ncbi.nlm.nih.gov/39490209/). *Stem cell research*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614673

GARD

Genetic and Rare Diseases Info Center

GARD:15833

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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microcephaly 8, 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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