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.

Synonyms: FXS FraX syndrome Martin-Bell syndrome FRAXA syndrome

This is just here as a test because I lose it

Term information

database cross reference
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908

hasDbXref

OMIM:311360

MeSH:D005600

ICD-10:Q99.2

UMLS:C0751156

MedDRA:10017324

UMLS:C0016667

OMIM:300624

has age of onset

http://www.orpha.net/ORDO/Orphanet_409946

http://www.orpha.net/ORDO/Orphanet_409945

http://www.orpha.net/ORDO/Orphanet_409944

has birth prevalence average value

9.7

16.11

1.3

2.4

19.0

has birth prevalence range

http://www.orpha.net/ORDO/Orphanet_409977

http://www.orpha.net/ORDO/Orphanet_409975

has inheritance

http://www.orpha.net/ORDO/Orphanet_409934

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409975

notation

ORPHA:908

part of

http://www.orpha.net/ORDO/Orphanet_240371

http://www.orpha.net/ORDO/Orphanet_166469

http://www.orpha.net/ORDO/Orphanet_522520

http://www.orpha.net/ORDO/Orphanet_102283

http://www.orpha.net/ORDO/Orphanet_98683

http://www.orpha.net/ORDO/Orphanet_306765

http://www.orpha.net/ORDO/Orphanet_180772

http://www.orpha.net/ORDO/Orphanet_611327

present in

http://www.orpha.net/ORDO/Orphanet_409991

http://www.orpha.net/ORDO/Orphanet_410225

http://www.orpha.net/ORDO/Orphanet_410031

http://www.orpha.net/ORDO/Orphanet_409984

http://www.orpha.net/ORDO/Orphanet_410066

http://www.orpha.net/ORDO/Orphanet_410198