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intellectual disability-facial dysmorphism-hand anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-facial dysmorphism-hand anomalies syndrome

MONDO:0018253

Overview

Diagnosis

Biomarker and diagnostic research for intellectual disability-facial dysmorphism-hand anomalies 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 intellectual disability-facial dysmorphism-hand anomalies syndrome.

204 publications have been identified in PubMed for intellectual disability-facial dysmorphism-hand anomalies syndrome. Kisho has analyzed 94 by research type. Research spans Review / Meta-Analysis (37%), Basic Science / Preclinical (21%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Research summaries	35	37%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:370010

GARD

Genetic and Rare Diseases Info Center

GARD:21585

Questions for Your Care Team

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intellectual disability-facial dysmorphism-hand anomalies syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications