SLC1A4 function has not been fully characterized.

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome is caused by mutations in the SLC1A4 gene on chromosome 2.

Genetic testing for SLC1A4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 1 very common feature, 15 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome.

5 publications have been identified in PubMed for spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Manav Yigit Z (2026). [PMID: 41545183](https://pubmed.ncbi.nlm.nih.gov/41545183/). *Journal of medical genetics*. [Case Report / Case Series]

• Mujahed RH (2026). [PMID: 41934118](https://pubmed.ncbi.nlm.nih.gov/41934118/). *J Investig Med High Impact Case Rep*. [Case Report / Case Series]

• Elazar D (2025). [PMID: 40076728](https://pubmed.ncbi.nlm.nih.gov/40076728/). *International journal of molecular sciences*. [Review / Meta-Analysis]

• Zhou X (2024). [PMID: 39091855](https://pubmed.ncbi.nlm.nih.gov/39091855/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]