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deafness, congenital, with total albinism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness, congenital, with total albinism

MONDO:0009081

Overview

GeneticsAutosomal recessive

ResearchLimited published research (4 articles)

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: Albinism, Hearing loss (hearing impairment), Hypogonadism, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Ears	1	Hearing loss (hearing impairment)
Hormones

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 deafness, congenital, with total albinism.

4 publications have been identified in PubMed for deafness, congenital, with total albinism. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

Idárraga GDO (2025). [PMID: 40080775](https://pubmed.ncbi.nlm.nih.gov/40080775/). *JBRA Assist Reprod*. [Epidemiology / Natural History]
Naqvi SF (2024). [PMID: 39554678](https://pubmed.ncbi.nlm.nih.gov/39554678/). *Pak J Med Sci*. [Epidemiology / Natural History]
Li K (2024). [PMID: 39732942](https://pubmed.ncbi.nlm.nih.gov/39732942/). *Sci Rep*. [Basic Science / Preclinical]
Yamamoto K (2024). [PMID: 38439523](https://pubmed.ncbi.nlm.nih.gov/38439523/). *Pigment Cell Melanoma Res*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:220900

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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deafness, congenital, with total albinism

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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