Mondo Description Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Disease Ontology Description A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
Mondo Term and Equivalent IDs
MONDO:0020341: periventricular nodular heterotopia