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microcephaly 7, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 7, primary, autosomal recessive

MONDO:0012989

Also known as:STIL autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in STILMCPH7

Overview

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

GeneticsAutosomal recessive · STIL (chr 1)

ResearchLimited published research (2 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, Absent speech, Global developmental delay, and Primary microcephaly and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Absent speech, Seizure, Global developmental delay

Genetic Landscape

STIL function has not been fully characterized.

Microcephaly 7, primary, autosomal recessive is associated with mutations in the STIL gene on chromosome 1.

Diagnosis

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

Prognosis

Phenotype severity distribution: 8 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 7, primary, autosomal recessive.

2 publications have been identified in PubMed for microcephaly 7, primary, autosomal recessive. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

Fu F (2026). [PMID: 41634881](https://pubmed.ncbi.nlm.nih.gov/41634881/). *Human genomics*. [Epidemiology / Natural History]
Farooq S (2025). [PMID: 41555927](https://pubmed.ncbi.nlm.nih.gov/41555927/). *Frontiers in genetics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612703

GARD

Genetic and Rare Diseases Info Center

GARD:15580

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 7, 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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