loading...| Preferred Name |
Fragile X syndrome |
|
| Synonyms |
FXS |
|
| Definitions |
A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_908 |
|
| alternative_term |
FXS Martin-Bell syndrome FRAXA syndrome FraX syndrome |
|
| definition |
A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
X-linked dominant |
|
| hasDbXref |
OMIM:300624 OMIM:311360 ICD-10:Q99.2 UMLS:C0016667 MeSH:D005600 MedDRA:10017324 ICD-11:LD55 |
|
| label |
Fragile X syndrome |
|
| notation |
ORPHA:908 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_180772 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_306765 http://www.orpha.net/ORDO/Orphanet_166469 http://www.orpha.net/ORDO/Orphanet_611327 |
|
| prefixIRI |
ORDO:Orphanet_908 |
|
| prefLabel |
Fragile X syndrome |
|
| present_in |
Spain AND has_birth_prevalence_average_value : 19.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_average_value : 16.11 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 32.5 AND has_point_prevalence_range : 1-5 / 10 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_180772 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_306765 http://www.orpha.net/ORDO/Orphanet_166469 http://www.orpha.net/ORDO/Orphanet_611327 |
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| subClassOf |