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alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

MONDO:0011019

Also known as:Devriendt-Vandenberghe-Fryns syndromealopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadismalopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism

Overview

This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.

Diagnosis

Biomarker and diagnostic research for alopecia-intellectual disability-hypergonadotropic hypogonadism 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 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome.

104 publications have been identified in PubMed for alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome. Kisho has analyzed 82 by research type. Research spans Review / Meta-Analysis (70%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Research summaries	57

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601217

Orphanet

European rare disease database

Orphanet:1014

GARD

Genetic and Rare Diseases Info Center

GARD:16553

Questions for Your Care Team

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alopecia-intellectual disability-hypergonadotropic hypogonadism 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

Recent Publications