loading...| Preferred Name |
Periventricular nodular heterotopia |
| ID |
http://www.orpha.net/ORDO/Orphanet_98892 |
| alternative_term |
PVNH |
| 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 |
| has_age_of_onset |
Childhood |
| has_inheritance |
Autosomal recessive Autosomal dominant X-linked dominant |
| hasDbXref |
OMIM:608097 OMIM:300049 OMIM:618918 MedDRA:10066854 UMLS:C1868720 OMIM:617201 OMIM:608098 OMIM:615544 ICD-10:Q04.8 OMIM:618185 ICD-11:LA05.5Y MeSH:D054091 OMIM:612881 |
| label |
Periventricular nodular heterotopia |
| notation |
Clinical subtype ORPHA:98892 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_98892 |
| prefLabel |
Periventricular nodular heterotopia |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView | |
| subClassOf |