Features include always present findings: Microcephaly; and common findings: Short stature, Seizure, Moderate global developmental delay, and Small for gestational age and others.

NCAPD3 encodes non-SMC condensin II complex subunit D3 (1,498 aa). Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis. Highest expression in Cells EBV-transformed lymphocytes (35.3 TPM) and Testis (14.5 TPM).

Microcephaly 22, primary, autosomal recessive is associated with mutations in the NCAPD3 gene on chromosome 11.

The NCAPD3 protein participates in MCPH1 sequesters condensin II pathway.

NCAPD3 is classified as a druggable target with score 0.0.

Genetic testing for NCAPD3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 5 common features.

No clinical trials have been registered for microcephaly 22, primary, autosomal recessive.

3 publications have been identified in PubMed for microcephaly 22, primary, autosomal recessive. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

• Gogate N (2025). [PMID: 40666329](https://pubmed.ncbi.nlm.nih.gov/40666329/). *medRxiv*. [Basic Science / Preclinical]

• Shah AWA (2025). [PMID: 40813497](https://pubmed.ncbi.nlm.nih.gov/40813497/). *Mol Biol Rep*. [Case Report / Case Series]

• Kang D (2024). [PMID: 39569992](https://pubmed.ncbi.nlm.nih.gov/39569992/). *FASEB J*. [Basic Science / Preclinical]