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periventricular nodular heterotopia type-1
Pathology:
- see periventricular nodular heterotopia
Genetics:
- X-linked dominant
- associated with defects in FLNA
Clinical manifestations:
- heterozygous females have normal intelligence but suffer from seizures & various manifestations outside the central nervous system, especially related to the vascular system
- hemizygous affected males die in the prenatal or perinatal period
General
periventricular nodular heterotopia (nodular brain heteropia)
Database Correlations
OMIM 300049
References
OMIM :accession 300049