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intellectual developmental disorder, autosomal recessive 70 (MRT70) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 70

MONDO:0032729

Also known as:MRT70Mental Retardation, Autosomal Recessive 70

Overview

GeneticsAutosomal recessive · RSRC1 (chr 3)

OnsetCHILDHOOD

ResearchLimited published research (8 articles)

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: Wide nasal bridge, Delayed speech and language development, Febrile seizure (within the age range of 3 months to 6 years), and Global developmental delay and others; and sometimes findings: Microcephaly, Seizure, and Autistic behavior. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed speech and language development, Febrile seizure (within the age range of 3 months to 6 years), Seizure

Genetic Landscape

RSRC1 function has not been fully characterized.

Intellectual developmental disorder, autosomal recessive 70 is associated with mutations in the RSRC1 gene on chromosome 3.

Diagnosis

Genetic testing for RSRC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present 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 developmental disorder, autosomal recessive 70.

8 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 70. Research spans Case Report / Case Series (63%), Review / Meta-Analysis (25%), and Other (13%).

Recent Publications

Asahi Y (2026). [PMID: 41791722](https://pubmed.ncbi.nlm.nih.gov/41791722/). *Anesth Prog*. [Case Report / Case Series]
Esmaeil Lashgarian H (2026). [PMID: 41625348](https://pubmed.ncbi.nlm.nih.gov/41625348/). *Iran J Med Sci*. [Case Report / Case Series]
Shah A (2025). [PMID: 39939801](https://pubmed.ncbi.nlm.nih.gov/39939801/). *J Hum Genet*. [Case Report / Case Series]
Ghosh U (2025). [PMID: 41035246](https://pubmed.ncbi.nlm.nih.gov/41035246/). *Clin Exp Pediatr*. [Case Report / Case Series]
Strych L (2025). [PMID: 39925176](https://pubmed.ncbi.nlm.nih.gov/39925176/). *Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618402

GARD

Genetic and Rare Diseases Info Center

GARD:22580

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 developmental disorder, autosomal recessive 70

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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