LHX4 encodes LIM homeobox 4 (390 aa). May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. Binds preferentially to methylated DNA Highest expression in Testis (5.2 TPM) and Brain Cerebellum (5.0 TPM).

Short stature-pituitary and cerebellar defects-small sella turcica syndrome is associated with mutations in the LHX4 gene on chromosome 1.

The LHX4 protein participates in SLIT2 gene expression is stimulated by ISL1 and Regulation of expression of SLITs and ROBOs pathways.

LHX4 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for LHX4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short stature-pituitary and cerebellar defects-small sella turcica syndrome has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

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

No clinical trials have been registered for short stature-pituitary and cerebellar defects-small sella turcica syndrome.

126 publications have been identified in PubMed for short stature-pituitary and cerebellar defects-small sella turcica syndrome. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (33%), and Case Report / Case Series (8%).

Recent Publications

• Tabuchi K (2026). [PMID: 41831576](https://pubmed.ncbi.nlm.nih.gov/41831576/). *Mol Cells*. [Review / Meta-Analysis]

• Shi Q (2026). [PMID: 42052621](https://pubmed.ncbi.nlm.nih.gov/42052621/). *Front Cell Neurosci*. [Diagnostic / Biomarker]

• Hafiz S (2026). [PMID: 32965955](https://pubmed.ncbi.nlm.nih.gov/32965955/). *Unknown Journal*. [Basic Science / Preclinical]

• Chen X (2026). [PMID: 41578548](https://pubmed.ncbi.nlm.nih.gov/41578548/). *Medicine (Baltimore)*. [Review / Meta-Analysis]

• He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *J Clin Invest*. [Basic Science / Preclinical]

• Kular S (2026). [PMID: 32119496](https://pubmed.ncbi.nlm.nih.gov/32119496/). *Unknown Journal*. [Case Report / Case Series]

• Zhang J (2026). [PMID: 40855003](https://pubmed.ncbi.nlm.nih.gov/40855003/). *Mol Psychiatry*. [Basic Science / Preclinical]

• Osório C (2026). [PMID: 41803111](https://pubmed.ncbi.nlm.nih.gov/41803111/). *Nat Commun*. [Basic Science / Preclinical]

• Ribeiro AC (2026). [PMID: 40554621](https://pubmed.ncbi.nlm.nih.gov/40554621/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]

• Garg RK (2026). [PMID: 42237532](https://pubmed.ncbi.nlm.nih.gov/42237532/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]