SOX11 function has not been fully characterized.

Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism is associated with mutations in the SOX11 gene on chromosome 2.

Genetic testing for SOX11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism has been reported in the published literature.

Phenotype severity distribution: 13 always present features, 25 common features.

No clinical trials have been registered for intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism.

232 publications have been identified in PubMed for intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (22%), and Case Report / Case Series (18%).

Recent Publications

• Munro V (2026). [PMID: 41252267](https://pubmed.ncbi.nlm.nih.gov/41252267/). *J Clin Endocrinol Metab*. [Clinical Trial Publication]

• Kafel H (2026). [PMID: 42141303](https://pubmed.ncbi.nlm.nih.gov/42141303/). *Curr Osteoporos Rep*. [Review / Meta-Analysis]

• Robin G (2026). [PMID: 41715131](https://pubmed.ncbi.nlm.nih.gov/41715131/). *Reproductive biology and endocrinology : RB&E*. [Review / Meta-Analysis]

• Tremonti C (2026). [PMID: 41735247](https://pubmed.ncbi.nlm.nih.gov/41735247/). *Clin Endocrinol (Oxf)*. [Epidemiology / Natural History]

• Pehlivan D (2026). [PMID: 41734767](https://pubmed.ncbi.nlm.nih.gov/41734767/). *Am J Hum Genet*. [Basic Science / Preclinical]

• Degenhardt F (2026). [PMID: 41257338](https://pubmed.ncbi.nlm.nih.gov/41257338/). *Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie*. [Review / Meta-Analysis]

• Young J (2026). [PMID: 41271602](https://pubmed.ncbi.nlm.nih.gov/41271602/). *J Clin Endocrinol Metab*. [Gene Therapy / Novel Therapeutics]

• Collado-Sole A (2026). [PMID: 41818388](https://pubmed.ncbi.nlm.nih.gov/41818388/). *Science*. [Basic Science / Preclinical]

• Aldurayhim F (2026). [PMID: 42057324](https://pubmed.ncbi.nlm.nih.gov/42057324/). *Am J Med Genet A*. [Gene Therapy / Novel Therapeutics]

• Stamou M (2026). [PMID: 41765865](https://pubmed.ncbi.nlm.nih.gov/41765865/). *Genet Med*. [Basic Science / Preclinical]