loading...| Preferred Name |
Sotos syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_821 |
| alternative_term |
Cerebral gigantism |
| definition |
A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
UMLS:C0175695 MedDRA:10064387 ICD-10:Q87.3 OMIM:617169 ICD-11:LD2C MeSH:D058495 OMIM:117550 |
| label |
Sotos syndrome |
| notation |
ORPHA:821 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_498448 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_98641 http://www.orpha.net/ORDO/Orphanet_262038 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_183422 |
| prefixIRI |
ORDO:Orphanet_821 |
| prefLabel |
Sotos syndrome |
| present_in |
Worldwide AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_498448 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_98641 http://www.orpha.net/ORDO/Orphanet_262038 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_183422 |
| subClassOf |