loading...| Preferred Name | periventricular nodular heterotopia | |
| Synonyms |
periventricular heterotopia periventricular nodular heterotopia |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020341 |
|
| altLabel |
periventricular heterotopia periventricular nodular heterotopia |
|
| 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. |
|
| has_exact_synonym |
periventricular heterotopia periventricular nodular heterotopia |
|
| label |
periventricular nodular heterotopia |
|
| prefixIRI |
MONDO:0020341 |
|
| prefLabel |
periventricular nodular heterotopia |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016292 |