Features include always present findings: Cerebellar vermis hypoplasia, Primary microcephaly, Clinodactyly of the 5th finger, and Intellectual disability.

NUP37 encodes nucleoporin 37 (326 aa). Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. Highest expression in Cells EBV-transformed lymphocytes (34.2 TPM) and Cells Cultured fibroblasts (23.2 TPM).

Microcephaly 24, primary, autosomal recessive is associated with mutations in the NUP37 gene on chromosome 12.

NUP37 is classified as a druggable target with score 0.0.

Genetic testing for NUP37 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcephaly 24, primary, autosomal recessive has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

No clinical trials have been registered for microcephaly 24, primary, autosomal recessive.

5 publications have been identified in PubMed for microcephaly 24, primary, autosomal recessive. Research spans Review / Meta-Analysis (40%), Diagnostic / Biomarker (20%), and Case Report / Case Series (20%).

Recent Publications

• Nair A (2025). [PMID: 39943681](https://pubmed.ncbi.nlm.nih.gov/39943681/). *Nucleus*. [Review / Meta-Analysis]

• Hashmi HB (2025). [PMID: 41452392](https://pubmed.ncbi.nlm.nih.gov/41452392/). *Neurogenetics*. [Diagnostic / Biomarker]

• Li Y (2024). [PMID: 39080077](https://pubmed.ncbi.nlm.nih.gov/39080077/). *J Cancer Res Clin Oncol*. [Review / Meta-Analysis]

• Hashim AS (2024). [PMID: 38773407](https://pubmed.ncbi.nlm.nih.gov/38773407/). *BMC Pediatr*. [Case Report / Case Series]

• Paracha SA (2024). [PMID: 39281811](https://pubmed.ncbi.nlm.nih.gov/39281811/). *Front Med (Lausanne)*. [Basic Science / Preclinical]