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microcephaly 21, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 21, primary, autosomal recessive

MONDO:0054804

Also known as:MCPH21

Overview

GeneticsAutosomal recessive · NCAPD2 (chr 12)

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, Moderate intellectual disability, and Short stature and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Absent speech, Moderate intellectual disability, Autistic behavior

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.

NCAPD2 encodes non-SMC condensin I complex subunit D2 (1,401 aa). Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. Highest expression in Cells EBV-transformed lymphocytes (123.2 TPM) and Cells Cultured fibroblasts (43.4 TPM).

Microcephaly 21, primary, autosomal recessive is associated with mutations in the NCAPD2 gene on chromosome 12.

The NCAPD2 protein participates in Condensation of Prometaphase Chromosomes pathway.

NCAPD2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NCAPD2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 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 21, primary, autosomal recessive.

2 publications have been identified in PubMed for microcephaly 21, primary, autosomal recessive. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Shah AWA (2025). [PMID: 40813497](https://pubmed.ncbi.nlm.nih.gov/40813497/). *Mol Biol Rep*. [Basic Science / Preclinical]
Chen B (2024). [PMID: 39680195](https://pubmed.ncbi.nlm.nih.gov/39680195/). *J Neurol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617983

GARD

Genetic and Rare Diseases Info Center

GARD:16278

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 21, 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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