Features include always present findings: Hypogonadotropic hypogonadism, Moderate intellectual disability, Dystonia, and Short stature and others; and common findings: Anterior pituitary hypoplasia, Cerebellar hypoplasia, and Progressive hearing impairment. 19 total HPO annotations.

DMXL2 encodes Dmx like 2 (3,036 aa). May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles. Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes Highest expression in Brain Cerebellar Hemisphere (22.0 TPM) and Brain Cerebellum (20.8 TPM).

Polyendocrine-polyneuropathy syndrome is associated with mutations in the DMXL2 gene on chromosome 15.

DMXL2 is classified as a druggable target with score 0.0.

Genetic testing for DMXL2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for polyendocrine-polyneuropathy syndrome has been reported in the published literature.

Phenotype severity distribution: 14 always present features, 3 common features.

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

No clinical trials have been registered for polyendocrine-polyneuropathy syndrome.

202 publications have been identified in PubMed for polyendocrine-polyneuropathy syndrome. Kisho has analyzed 86 by research type. Research spans Review / Meta-Analysis (73%), Basic Science / Preclinical (13%), and Diagnostic / Biomarker (3%).