# IGSF1 deficiency syndrome

> X-linked disease characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has material basis in mutation of the IGSF1 gene on chromosome Xq26

**Wikidata**: [Q50349806](https://www.wikidata.org/wiki/Q50349806)  
**Source**: https://4ort.xyz/entity/igsf1-deficiency-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147255/MONDO_0010475)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023