loading...| Preferred Name |
Porencephaly |
| ID |
http://www.orpha.net/ORDO/Orphanet_2940 |
| definition |
A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 |
| has_age_of_onset |
Antenatal Neonatal Infancy |
| has_inheritance |
Not applicable Multigenic/multifactorial |
| hasDbXref |
ICD-11:LA05.60 ICD-10:Q04.6 MedDRA:10036172 OMIM:175780 OMIM:614483 UMLS:C0302892 |
| label |
Porencephaly |
| notation |
ORPHA:2940 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_2940 |
| prefLabel |
Porencephaly |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 5.2 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |