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intellectual disability, autosomal recessive 30 (MRT30) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 30

MONDO:0013704

Also known as:MRT30mental retardation, autosomal recessive 30

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: Microcephaly, Macroglossia, Growth delay, and Severe intellectual disability.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Growth and development

Diagnosis

Biomarker and diagnostic research for intellectual disability, autosomal recessive 30 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 30.

18 publications have been identified in PubMed for intellectual disability, autosomal recessive 30. Kisho has analyzed 14 by research type. Research spans Case Report / Case Series (57%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (7%).

Research Type	Count	% of Total
Patient case studies	8	57%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614342

GARD

Genetic and Rare Diseases Info Center

GARD:22557

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 30

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 30

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