loading...| Preferred Name | Smith-Magenis syndrome | |
| Synonyms |
17p11.2 microdeletion syndrome |
|
| Definitions |
A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_819 |
|
| alternative_term |
17p11.2 microdeletion syndrome |
|
| definition |
A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal). |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=819 |
|
| has_age_of_onset |
Adolescent Adult Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
OMIM:182290 ICD-10:Q93.5 MedDRA:10081680 ICD-11:LD44.H1 UMLS:C0795864 MeSH:D058496 |
|
| label |
Smith-Magenis syndrome |
|
| notation |
ORPHA:819 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_180772 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_611327 |
|
| prefixIRI |
ORDO:Orphanet_819 |
|
| prefLabel |
Smith-Magenis syndrome |
|
| present_in |
Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 5.35 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 5.35 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_180772 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_611327 |
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| subClassOf |