Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

microcephaly 16, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 16, primary, autosomal recessive

MONDO:0014730

Also known as:MCPH16microcephaly 16, primary, autosomal recessive; MCPH16

Overview

GeneticsAutosomal recessive · ANKLE2 (chr 12)

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: Hypermelanotic macule, Sloping forehead, Spastic tetraplegia, and Hypopigmented macule and others; and very common findings: Adducted thumb. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Spastic tetraplegia, Seizure, Global developmental delay

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.

ANKLE2 encodes ankyrin repeat and LEM domain containing 2 (938 aa). Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. Highest expression in Testis (72.1 TPM) and Cells Cultured fibroblasts (44.7 TPM).

Microcephaly 16, primary, autosomal recessive is associated with mutations in the ANKLE2 gene on chromosome 12.

The ANKLE2 protein participates in ANKLE2 is deacetylated by SIRT2 pathway.

ANKLE2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for ANKLE2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 1 very common feature, 7 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 16, primary, autosomal recessive.

7 publications have been identified in PubMed for microcephaly 16, primary, autosomal recessive. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (29%), and Basic Science / Preclinical (29%).

Recent Publications

Gündoğdu Öğütlü ÖB (2026). [PMID: 42144532](https://pubmed.ncbi.nlm.nih.gov/42144532/). *Acta Neurol Belg*. [Review / Meta-Analysis]
Nair A (2025). [PMID: 39943681](https://pubmed.ncbi.nlm.nih.gov/39943681/). *Nucleus*. [Review / Meta-Analysis]
Yeter B (2025). [PMID: 41153337](https://pubmed.ncbi.nlm.nih.gov/41153337/). *Genes (Basel)*. [Basic Science / Preclinical]
Falabella M (2025). [PMID: 39279645](https://pubmed.ncbi.nlm.nih.gov/39279645/). *Brain*. [Basic Science / Preclinical]
Almeida JV (2025). [PMID: 40476269](https://pubmed.ncbi.nlm.nih.gov/40476269/). *Front Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 11:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616681

GARD

Genetic and Rare Diseases Info Center

GARD:16151

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?

← Back to All Diseases

microcephaly 16, primary, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features