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intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

MONDO:0009581

Also known as:Belgian type intellectual disability syndromeBelgian type mental retardation syndromeintellectual disability syndrome, Belgian type

Overview

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.

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 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome.

44 publications have been identified in PubMed for intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	15	38%

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:249599

Orphanet

European rare disease database

Orphanet:3044

GARD

Genetic and Rare Diseases Info Center

GARD:9811

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

Overview

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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