Features include always present findings: Micropenis, Delayed skeletal maturation, Persistence of hemoglobin F, and Erythroid dysplasia and others; and common findings: Anterior pituitary hypoplasia, Chiari type I malformation, and Cryptorchidism.

SLC30A7 function has not been fully characterized.

Ziegler-Huang syndrome is associated with mutations in the SLC30A7 gene on chromosome 1.

Genetic testing for SLC30A7 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 12 always present features, 3 common features.

No clinical trials have been registered for Ziegler-Huang syndrome.

1 publication has been identified in PubMed for Ziegler-Huang syndrome. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Huang L (2025). [PMID: 40286389](https://pubmed.ncbi.nlm.nih.gov/40286389/). *J Trace Elem Med Biol*. [Basic Science / Preclinical]