Ehlers-Danlos syndrome with periventricular heterotopia (Q101875)

Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a variant of EDS with features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation and periventricular heterotopia (PH), which is characterised by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal.