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aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

MONDO:0017934

Also known as:aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndromeaphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome

Overview

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.

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 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome.

200 publications have been identified in PubMed for aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome. Kisho has analyzed 23 by research type. Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (17%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Laboratory research	9

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:324540

GARD

Genetic and Rare Diseases Info Center

GARD:21443

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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