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microcephaly 25, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 25, primary, autosomal recessive

MONDO:0032694

Also known as:MCPH25

Overview

GeneticsAutosomal recessive · TRAPPC14 (chr 7)

OnsetCONGENITAL

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: Delayed speech and language development, Hypoplasia of the corpus callosum, Global developmental delay, and Primary microcephaly and others; and common findings: Tethered cord and Filum terminale lipoma.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Delayed speech and language development, Global developmental delay, Intellectual disability

Genetic Landscape

TRAPPC14 function has not been fully characterized.

Microcephaly 25, primary, autosomal recessive is associated with mutations in the TRAPPC14 gene on chromosome 7.

Diagnosis

Genetic testing for TRAPPC14 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 25, primary, autosomal recessive.

4 publications have been identified in PubMed for microcephaly 25, primary, autosomal recessive. Research spans Review / Meta-Analysis (75%) and Case Report / Case Series (25%).

Recent Publications

Gündoğdu Öğütlü ÖB (2026). [PMID: 42144532](https://pubmed.ncbi.nlm.nih.gov/42144532/). *Acta Neurol Belg*. [Review / Meta-Analysis]
Zhang T (2025). [PMID: 41306914](https://pubmed.ncbi.nlm.nih.gov/41306914/). *Front Genet*. [Case Report / Case Series]
Chen B (2024). [PMID: 39680195](https://pubmed.ncbi.nlm.nih.gov/39680195/). *J Neurol*. [Review / Meta-Analysis]
Hall R (2024). [PMID: 39769094](https://pubmed.ncbi.nlm.nih.gov/39769094/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618351

GARD

Genetic and Rare Diseases Info Center

GARD:16346

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 25, primary, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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