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Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:36 AM UTC
Online Mendelian Inheritance in Man
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 4 | Recurrent infections, T-cell lymphoma, Hodgkin lymphoma |
Growth and development | 3 | Severe short stature, Decreased response to growth hormone stimulation test, Intrauterine growth retardation |
Head and neck | 2 | Relative macrocephaly, Microcephaly |
Bones and joints | 2 | Mild bone density loss (osteopenia), Sideways curvature of the spine (scoliosis) |
Hormones | 2 | Congenital adrenal hypoplasia, Decreased response to growth hormone stimulation test |
Brain and nerves | 1 | Seizure |
Digestive system | 1 | Feeding difficulties |
Pregnancy and birth | 1 | Congenital adrenal hypoplasia |
Skin | 1 | Eczematoid dermatitis |
POLE function has not been fully characterized.
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency is associated with mutations in the POLE gene on chromosome 12.
Genetic testing for POLE is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 1 very common feature, 4 common features.
No clinical trials have been registered for intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.
1 publication has been identified in PubMed for intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. Research spans Case Report / Case Series (100%).
Mao D (2026). [PMID: 41618189](https://pubmed.ncbi.nlm.nih.gov/41618189/). *BMC Pediatr*. [Case Report / Case Series]