loading...| Preferred Name |
Cerebrooculonasal syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_66625 |
| definition |
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:Q87.0 ICD-11:LD20.Y UMLS:C1854108 OMIM:605627 |
| label |
Cerebrooculonasal syndrome |
| notation |
ORPHA:66625 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_269531 |
| prefixIRI |
ORDO:Orphanet_66625 |
| prefLabel |
Cerebrooculonasal syndrome |
| present_in |
Worldwide AND has_cases/families_value : 21.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_269531 |
| subClassOf |