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deaf blind hypopigmentation syndrome, Yemenite type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deaf blind hypopigmentation syndrome, Yemenite type

MONDO:0011133

Also known as:Warburg-Thomsen syndromeYemenite deaf-blind hypopigmentation syndromeYemenite (Warburg) deaf-blind hypopigmentation syndrome

Overview

Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Inner ear hearing loss (sensorineural hearing impairment), Strabismus, Delayed eruption of teeth, and Hyperpigmentation of the skin and others; and common findings: Short philtrum, High forehead, Difficulty walking (gait disturbance), and Iris hypopigmentation and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Patchy hypo- and hyperpigmentation, Hyperpigmentation of the skin, Hypopigmented skin patches

Diagnosis

Biomarker and diagnostic research for deaf blind hypopigmentation syndrome, Yemenite type has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 5 common features.

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 deaf blind hypopigmentation syndrome, Yemenite type.

142 publications have been identified in PubMed for deaf blind hypopigmentation syndrome, Yemenite type. Research spans Review / Meta-Analysis (53%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Research summaries	75	53%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601706

Orphanet

European rare disease database

Orphanet:3214

GARD

Genetic and Rare Diseases Info Center

GARD:5535

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

deaf blind hypopigmentation syndrome, Yemenite type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

deaf blind hypopigmentation syndrome, Yemenite type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications