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intellectual developmental disorder, autosomal recessive 79 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 79

MONDO:0957288

Overview

GeneticsAutosomal recessive · TPR (chr 1)

ResearchLimited published research (4 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: Delayed CNS myelination, Severe intellectual disability, Broad nasal tip, and Feeding difficulties and others; and common findings: Short hallux, Gait ataxia, Low muscle tone (hypotonia), and Intention tremor and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Gait ataxia, Intention tremor, Severe intellectual disability

Genetic Landscape

TPR function has not been fully characterized.

Intellectual developmental disorder, autosomal recessive 79 is associated with mutations in the TPR gene on chromosome 1.

Diagnosis

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

Prognosis

Phenotype severity distribution: 7 always present features, 16 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 developmental disorder, autosomal recessive 79.

4 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 79. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

Aspromonte MC (2025). [PMID: 39786577](https://pubmed.ncbi.nlm.nih.gov/39786577/). *Hum Genet*. [Epidemiology / Natural History]
Deng IB (2024). [PMID: 39026821](https://pubmed.ncbi.nlm.nih.gov/39026821/). *bioRxiv*. [Basic Science / Preclinical]
Aguirre AS (2024). [PMID: 39548419](https://pubmed.ncbi.nlm.nih.gov/39548419/). *BMC Pediatr*. [Review / Meta-Analysis]
Li Y (2024). [PMID: 39080077](https://pubmed.ncbi.nlm.nih.gov/39080077/). *J Cancer Res Clin Oncol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620393

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 79

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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