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microcephaly 28, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 28, primary, autosomal recessive

MONDO:0030339

Also known as:MCPH28

Overview

GeneticsAutosomal recessive · RRP7A (chr 22)

OnsetCONGENITAL

ResearchLimited published research (1 article)

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: Microcephaly, Sloping forehead, and Intellectual disability; and common findings: Delayed speech and language development.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Delayed speech and language development, Intellectual disability

Genetic Landscape

RRP7A function has not been fully characterized.

Microcephaly 28, primary, autosomal recessive is associated with mutations in the RRP7A gene on chromosome 22.

Diagnosis

Genetic testing for RRP7A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

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 28, primary, autosomal recessive.

1 publication has been identified in PubMed for microcephaly 28, primary, autosomal recessive. Research spans Basic Science / Preclinical (100%).

Recent Publications

Yeter B (2025). [PMID: 41153337](https://pubmed.ncbi.nlm.nih.gov/41153337/). *Genes (Basel)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619453

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 28, primary, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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