Male and female phenotype models

Through an international collaboration, led by Prof. Ingrid E. Scheffer of the University of Melbourne – Australia, the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy were analyzed. Phenotypic features included developmental delay / intellectual disability in 86 cases (99%), seizures in 71 cases (83%) and multiple comorbidities. Males reported more severe developmental impairment; the females instead showed a variable picture often accompanied by epilepsy. In all cases, NEXMIF encephalopathy manifested itself due to variants with loss of function.