Disease - Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- DefinitionAn autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth failure, metaphyseal dysplasia, adrenal hypoplasia congenita, growth hormone deficiency, genital anomalies, and immunodeficiency resulting in increased infections.
- AcronymIMAGEI
- Cross references
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Browse 1 entry- DNA polymerase epsilon catalytic subunit A · Gene: POLE (POLE1) · Homo sapiens (Human) · EC:2.7.7.7 · 2286 amino acids · Evidence at protein level · Annotation score: 5/5