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intellectual disability, autosomal recessive 33 (MRT33) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 33

MONDO:0013703

Also known as:MRT33mental retardation, autosomal recessive 33

Overview

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: Moderate intellectual disability, Abnormal facial shape, Syndactyly, and Short toe.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Moderate intellectual disability
Head and neck

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, autosomal recessive 33.

10 publications have been identified in PubMed for intellectual disability, autosomal recessive 33. Research spans Epidemiology / Natural History (40%), Basic Science / Preclinical (30%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Disease patterns and progression	4	40%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614341

GARD

Genetic and Rare Diseases Info Center

GARD:22556

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

intellectual disability, autosomal recessive 33

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, autosomal recessive 33

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications