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short-rib thoracic dysplasia 15 with polydactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short-rib thoracic dysplasia 15 with polydactyly

MONDO:0014907

Also known as:SRTD15short-rib thoracic dysplasia 15 with polydactyly; SRTD15

Overview

GeneticsAutosomal recessive · DYNC2LI1 (chr 2)

ResearchLimited published research (1 article)

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: Narrow chest, Short long bone, Polyhydramnios, and Postaxial hand polydactyly and others; and common findings: Epicanthus, Brachydactyly, Median cleft upper lip, and Atrioventricular canal defect and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	2	Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DYNC2LI1 encodes dynein cytoplasmic 2 light intermediate chain 1 (351 aa). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system, facilitating the assembly of these organelles. Highest expression in Testis (24.4 TPM) and Ovary (23.4 TPM).

Short-rib thoracic dysplasia 15 with polydactyly is associated with mutations in the DYNC2LI1 gene on chromosome 2.

DYNC2LI1 is classified as a druggable target with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for DYNC2LI1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 15 with polydactyly has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 7 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 short-rib thoracic dysplasia 15 with polydactyly.

1 publication has been identified in PubMed for short-rib thoracic dysplasia 15 with polydactyly. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Nakajima E (2024). [PMID: 39622812](https://pubmed.ncbi.nlm.nih.gov/39622812/). *Hum Genome Var*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617088

GARD

Genetic and Rare Diseases Info Center

GARD:16185

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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short-rib thoracic dysplasia 15 with polydactyly

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

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