Features include always present findings: Delayed speech and language development, Delayed ability to walk, Global developmental delay, and Primary microcephaly; and common findings: Micropenis, Short finger, Chronic constipation, and Clinodactyly of the 5th finger and others. 18 total HPO annotations.

LMNB2 encodes lamin B2 (620 aa). Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane. Highest expression in Cells EBV-transformed lymphocytes (104.6 TPM) and Cells Cultured fibroblasts (96.1 TPM).

Microcephaly 27, primary, autosomal dominant is associated with mutations in the LMNB2 gene on chromosome 19.

LMNB2 is classified as a druggable target with score 10.4.

Genetic testing for LMNB2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 5 common features.

No clinical trials have been registered for microcephaly 27, primary, autosomal dominant.

2 publications have been identified in PubMed for microcephaly 27, primary, autosomal dominant. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Vollmer LL (2025). [PMID: 40025114](https://pubmed.ncbi.nlm.nih.gov/40025114/). *Sci Rep*. [Basic Science / Preclinical]

• Villamor-Payà M (2024). [PMID: 38868186](https://pubmed.ncbi.nlm.nih.gov/38868186/). *iScience*. [Case Report / Case Series]