Disease association ontology term - MONDO:0020341 - periventricular nodular heterotopia
Term summary
- ID
- MONDO:0020341
- Name
- periventricular nodular heterotopia
- Ontology or CV name
- Disease association
- Definition
- 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.
