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intellectual disability, X-linked, with panhypopituitarism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked, with panhypopituitarism

MONDO:0010252

Also known as:intellectual developmental disorder, X-linked, with isolated growth hormone deficiencyintellectual disability, X-linked, with isolated Growth hormone deficiencymental retardation, X-linked, with isolated Growth hormone deficiency

Overview

GeneticsX-linked · SOX3 (chr X)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Mild intellectual disability, Panhypopituitarism, Short stature, and Global developmental delay and 2 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Mild intellectual disability, Global developmental delay

Genetic Landscape

SOX3 function has not been fully characterized.

Intellectual disability, X-linked, with panhypopituitarism is associated with mutations in the SOX3 gene on chromosome X.

Diagnosis

Genetic testing for SOX3 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual disability, X-linked, with panhypopituitarism.

4 publications have been identified in PubMed for intellectual disability, X-linked, with panhypopituitarism. Research spans Basic Science / Preclinical (75%) and Review / Meta-Analysis (25%).

Recent Publications

De Dominicis C (2026). [PMID: 42029673](https://pubmed.ncbi.nlm.nih.gov/42029673/). *Endocr Rev*. [Basic Science / Preclinical]
Broeren EC (2025). [PMID: 40496713](https://pubmed.ncbi.nlm.nih.gov/40496713/). *Genet Med Open*. [Review / Meta-Analysis]
Shibata N (2024). [PMID: 38462462](https://pubmed.ncbi.nlm.nih.gov/38462462/). *Endocr J*. [Basic Science / Preclinical]
Van Gils J (2024). [PMID: 39407026](https://pubmed.ncbi.nlm.nih.gov/39407026/). *Commun Biol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300123

Questions for Your Care Team

→Should female family members consider carrier screening for SOX3?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual disability, X-linked, with panhypopituitarism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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