<unk>  is a rare neurodevelopmental genetic disorder, presenting with a severe epileptic encephalopathy, developmental delay, Intellectual disability, progressive microcephaly and visual disturbance. It is listed by the standard reference, Online Mendelian Inheritance in Man (OMIM) as #618744. and classified as EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83. It was first described in 2019 by Dr. Stefan<unk>  and his team at the Erasmus University Medical Center in Rotterdam in the journal Acta Neuropathologica; the most recent review was published in Epilepsy Currents.
Barakat-Perenthaler syndrome
Koolen–De Vries syndrome
Baggio–Yoshinari syndrome
Urbach–Wiethe disease
Bannayan–Riley–Ruvalcaba syndrome
Witteveen–Kolk syndrome
Townes–Brocks syndrome
McKittrick-Wheelock syndrome