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microcephaly 14, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 14, primary, autosomal recessive

MONDO:0014623

Also known as:SASS6 autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in SASS6MCPH14

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.

GeneticsAutosomal recessive · SASS6 (chr 1)

OnsetCONGENITAL

ResearchLimited published research (7 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: Poor speech, Cerebellar vermis hypoplasia, Aggressive behavior, and Global developmental delay and others; and common findings: Seizure.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Poor speech, Seizure, Aggressive behavior

Genetic Landscape

SASS6 function has not been fully characterized.

Microcephaly 14, primary, autosomal recessive is associated with mutations in the SASS6 gene on chromosome 1.

Diagnosis

Genetic testing for SASS6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 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 14, primary, autosomal recessive.

7 publications have been identified in PubMed for microcephaly 14, primary, autosomal recessive. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (43%), and Review / Meta-Analysis (14%).

Recent Publications

Jiang Q (2026). [PMID: 41970958](https://pubmed.ncbi.nlm.nih.gov/41970958/). *Front Cell Dev Biol*. [Basic Science / Preclinical]
Li YF (2026). [PMID: 42002830](https://pubmed.ncbi.nlm.nih.gov/42002830/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Farooq S (2025). [PMID: 41555927](https://pubmed.ncbi.nlm.nih.gov/41555927/). *Front Genet*. [Basic Science / Preclinical]
Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Case Report / Case Series]
Kong X (2024). [PMID: 38501757](https://pubmed.ncbi.nlm.nih.gov/38501757/). *Am J Med Genet A*. [Case Report / Case Series]

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:616402

GARD

Genetic and Rare Diseases Info Center

GARD:16105

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 14, 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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