loading...| Preferred Name |
Hydranencephaly |
| ID |
http://www.orpha.net/ORDO/Orphanet_2177 |
| definition |
A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal recessive Unknown |
| hasDbXref |
ICD-11:LA05.62 ICD-10:Q04.3 UMLS:C0020225 MeSH:D006832 |
| label |
Hydranencephaly |
| notation |
ORPHA:2177 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_2177 |
| prefLabel |
Hydranencephaly |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |