The mutations map to the SHQ1-NAP57 interface and impair the interaction of the recombinant SHQ1 variants with NAP57.<h4>Conclusion</h4>Intrauterine growth retardation and the neurological phenotype of the patient are reminiscent of the severe clinical variant of DC, the Hoyeraal-Hreidarsson syndrome (HH). The gene discussed is SHQ1; the disease is Hoyeraal-Hreidarsson syndrome.