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intellectual disability, autosomal recessive 16 (MRT16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 16

MONDO:0013629

Also known as:MRT16mental retardation, autosomal recessive 16

Overview

GeneticsAutosomal recessive

Clinical Presentation

Features include: Seizure, Synophrys, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Intellectual disability

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Diagnosis

Biomarker and diagnostic research for intellectual disability, autosomal recessive 16 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 16.

44 publications have been identified in PubMed for intellectual disability, autosomal recessive 16. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Patient case studies	20	48%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614208

GARD

Genetic and Rare Diseases Info Center

GARD:22551

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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intellectual disability, autosomal recessive 16

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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