Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

intellectual disability, autosomal recessive 61 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 61

MONDO:0030915

Also known as:Alwadei syndromeMRT61autosomal recessive intellectual disability 61

Overview

An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.

GeneticsAutosomal recessive · RUSC2 (chr 9)

OnsetCONGENITAL

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 always present findings: Low muscle tone (hypotonia) and Intellectual disability; and very common findings: Axial hypotonia. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Aggressive behavior, Intellectual disability, Babinski sign

Genetic Landscape

RUSC2 function has not been fully characterized.

Intellectual disability, autosomal recessive 61 has been associated with mutations in the RUSC2 gene on chromosome 9.

Diagnosis

Genetic testing for RUSC2 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 61 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 36 common features.

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 61.

10 publications have been identified in PubMed for intellectual disability, autosomal recessive 61. Research spans Case Report / Case Series (40%), Epidemiology / Natural History (20%), and Other (10%).

Research Type	Count	% of Total
Patient case studies	4	40%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617773

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?

← Back to All Diseases

Kisho

intellectual disability, autosomal recessive 61

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, autosomal recessive 61

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications