Features include always present findings: Long philtrum, Anteverted nares, Brachydactyly, and Broad hallux and others; and common findings: Abnormality of the dentition, Prominent fingertip pads, Short stature, and Short nose and others. 34 total HPO annotations.

NXN encodes nucleoredoxin (435 aa). Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex.

Robinow syndrome, autosomal recessive 2 is associated with mutations in the NXN gene on chromosome 17.

NXN is classified as a druggable target with score 0.0.

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

Phenotype severity distribution: 13 always present features, 20 common features.

No clinical trials have been registered for robinow syndrome, autosomal recessive 2.

1 publication has been identified in PubMed for robinow syndrome, autosomal recessive 2. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Tophkhane SS (2024). [PMID: 38967226](https://pubmed.ncbi.nlm.nih.gov/38967226/). *Dis Model Mech*. [Basic Science / Preclinical]