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Definition

A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.

Acronym

PVNH1

Synonyms

BPNH
Familial nodular heterotopia
NHBP
Nodular heterotopia bilateral periventricular
Periventricular heterotopia Ehlers-Danlos variant
Periventricular heterotopia X-linked dominant
Periventricular nodular heterotopia 4
PVNH4

 
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