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disorder of sex development-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

disorder of sex development-intellectual disability syndrome

MONDO:0010824

Also known as:Verloes-Gillerot-Fryns syndromepseudohermaphroditism-intellectual disability syndromeMale pseudohermaphroditism intellectual disability syndrome, Verloes type

Overview

A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.

Diagnosis

Biomarker and diagnostic research for disorder of sex development-intellectual disability syndrome has been reported in the published literature.

Prognosis

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

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 disorder of sex development-intellectual disability syndrome.

196 publications have been identified in PubMed for disorder of sex development-intellectual disability syndrome. Kisho has analyzed 107 by research type. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Research summaries	72	67%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600122

Orphanet

European rare disease database

Orphanet:2983

GARD

Genetic and Rare Diseases Info Center

GARD:4550

Questions for Your Care Team

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disorder of sex development-intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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