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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
General
periventricular nodular heterotopia (nodular brain heteropia)
Database Correlations
OMIM 300537
References
OMIM :accession 300537