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ermine phenotype - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ermine phenotype

MONDO:0009196

Also known as:O'Doherty syndromepigmentary disorder with hearing lossBADS

Overview

A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.

GeneticsAutosomal recessive

OnsetINFANTILE

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 always present findings: Vitiligo, Mild intellectual disability, Inner ear hearing loss (sensorineural hearing impairment), and Spotty hyperpigmentation and others. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Vitiligo, Spotty hyperpigmentation

Diagnosis

Biomarker and diagnostic research for ermine phenotype has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present 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 ermine phenotype.

12 publications have been identified in PubMed for ermine phenotype. Research spans Clinical Trial Publication (25%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Clinical study results	3	25%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:227010

Orphanet

European rare disease database

Orphanet:999

GARD

Genetic and Rare Diseases Info Center

GARD:407

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

ermine phenotype

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

ermine phenotype

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