Features include always present findings: Micromelia, Brachydactyly, Short stature, and Postnatal growth retardation and others; and very common findings: Narrow forehead, Long philtrum, Low muscle tone (hypotonia), and Hypoplasia of the zygomatic bone and others. 34 total HPO annotations.

NBAS encodes NBAS subunit of NRZ tethering complex (2,371 aa). Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. Highest expression in Testis (28.8 TPM) and Cells Cultured fibroblasts (23.7 TPM).

Short stature-optic atrophy-Pelger-Huët anomaly syndrome is associated with mutations in the NBAS gene on chromosome 2.

NBAS is classified as a druggable target with score 0.0.

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

Biomarker and diagnostic research for short stature-optic atrophy-Pelger-Huët anomaly syndrome has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 11 very common features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for short stature-optic atrophy-Pelger-Huët anomaly syndrome.

204 publications have been identified in PubMed for short stature-optic atrophy-Pelger-Huët anomaly syndrome. Kisho has analyzed 28 by research type. Research spans Review / Meta-Analysis (54%), Epidemiology / Natural History (18%), and Case Report / Case Series (11%).