Features include always present findings: Global developmental delay; and very common findings: Progressive microcephaly and Neonatal respiratory distress. 43 total HPO annotations.

SMPD4 function has not been fully characterized.

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies is associated with mutations in the SMPD4 gene on chromosome 2.

Genetic testing for SMPD4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 very common features, 9 common features.

No clinical trials have been registered for neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies.

3 publications have been identified in PubMed for neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Mencacci NE (2026). [PMID: 42012897](https://pubmed.ncbi.nlm.nih.gov/42012897/). *J Clin Invest*. [Basic Science / Preclinical]

• Tayade N (2025). [PMID: 39891267](https://pubmed.ncbi.nlm.nih.gov/39891267/). *J Med Case Rep*. [Case Report / Case Series]

• Du J (2024). [PMID: 38690959](https://pubmed.ncbi.nlm.nih.gov/38690959/). *Psychiatr Genet*. [Diagnostic / Biomarker]