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intellectual disability, autosomal recessive 4 (MRT4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 4

MONDO:0012623

Also known as:MRT4mental retardation, autosomal recessive, 4mental retardation, autosomal recessive 4

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: Upslanted palpebral fissure, Microcephaly, Global developmental delay, and Malar flattening and 2 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Global developmental delay, Intellectual disability
Head and neck

Diagnosis

Biomarker and diagnostic research for intellectual disability, autosomal recessive 4 has been reported in the published literature.

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 4.

77 publications have been identified in PubMed for intellectual disability, autosomal recessive 4. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	35	45%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 6:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611107

GARD

Genetic and Rare Diseases Info Center

GARD:22547

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 4

Overview

Clinical Presentation

Diagnosis

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 4

Overview

Clinical Presentation

Diagnosis

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