periventricular nodular heterotopia
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016292
nodular neuronal heterotopia
is_a
MONDO:0100545
hereditary neurological disease
is_a
periventricular nodular heterotopia
exact
SPAC11G7.02 SPBC16E9.11c SPAC30.01c SPAC1805.15c SPBC4F6.18c SPAC4D7.01c