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distal arthrogryposis type 2B1 (DA2B1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal arthrogryposis type 2B1

MONDO:0020820

Also known as:DA2B1arthrogryposis, distal, type 2B1

Overview

GeneticsAutosomal dominant · TNNI2 (chr 11)

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: Downslanted palpebral fissures, Ulnar deviation of the wrist, Absent phalangeal crease, and Long philtrum and 19 more.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Camptodactyly of finger, Ulnar deviation of the hand or of fingers of the hand, Rocker bottom foot

Genetic Landscape

TNNI2 function has not been fully characterized.

Distal arthrogryposis type 2B1 is associated with mutations in the TNNI2 gene on chromosome 11.

Diagnosis

Genetic testing for TNNI2 is available. Testing is considered confirmatory for diagnosis.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601680

GARD

Genetic and Rare Diseases Info Center

GARD:9909

Questions for Your Care Team

→Should I pursue genetic testing for TNNI2, and what would the results mean for my family?
→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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distal arthrogryposis type 2B1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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