Ehlers-Danlos syndrome with periventricular heterotopia (Q101875): Difference between revisions

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Latest revision as of 18:43, 16 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1856995165
English	Ehlers-Danlos syndrome with periventricular heterotopia	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.