periventricular nodular heterotopia type-4; periventricular heterotopia Ehlers-Danlos variant

Pathology

• see periventricular nodular heterotopia

Genetics

• associated with defects in FLNA

Clinical manifestations

• joint hypermobility
• development of aortic dilatation in early adulthood

More general terms

• periventricular nodular heterotopia (nodular brain heteropia)

Database

• OMIM: https://mirror.omim.org/entry/300537