Williams-Beuren syndrome

neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression
rdfs:label
"Williams-Beuren syndrome"@en
skos:altLabel
"Fanconi Schlesinger syndrome"@en
"WBS"@en
"WS"@en
"Williams syndrome"@en
"chromosome 7Q11.23 Deletion Syndrome, 1.5- to 1.8-Mb"@en
"deletion 7q11.23"@en
"monosomy 7q11.23"@en
schema:description
"neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression"@en
schema:dateModified "2026-10-24T00:41:55+00:00"^^xsd:dateTime
schema:version 2560168092
wikibase:identifiers 48
51
wikibase:sitelinks 48
wikibase:statements 120
p:P10 wd:statement/Q558077-ab717a83-482f-4387-5fec-ca9c57039744
p:P10283 wd:statement/Q558077-73435122-D0A3-4993-BB4F-E92954087ACC
p:P1036 wd:statement/Q558077-2271BF38-4BB3-48B8-B7C1-4E555671183B
wd:statement/Q558077-E1B6B785-E4C2-455C-9AA7-DE9282CC75C3
p:P11143 wd:statement/Q558077-A9918AC5-7E44-4783-8961-2552502B1338
p:P1193 wd:statement/Q558077-F996E7C2-2C02-4A25-A7F6-E98D06FEB038
p:P1325 wd:statement/Q558077-4F34158D-5950-48DA-8546-F183A033A7D9
p:P13591 wd:statement/Q558077-94AC415F-570C-4BE1-AC8E-90A38D4E8653
p:P138 wd:statement/q558077-f5dfb227-432b-c821-7928-45aa157d2604
p:P14914 wd:statement/Q558077-783430E5-78C3-4876-A4F0-A8A6D2EAFBFF
p:P1550 wd:statement/Q558077-86209b41-469a-b347-cf98-5c60a2cd7c23
p:P1617 wd:statement/Q558077-B9926E70-6835-4DB9-8A74-9CCBFBC845E0
p:P1692 wd:statement/Q558077-4BA4E243-CEF7-45E1-B4CC-46BE8DBE561A
p:P1748 wd:statement/Q558077-054C4C15-D947-455D-896B-CBCBDF9F1349
p:P18 wd:statement/Q558077-88d7364e-4dbd-5553-e639-60856e93df3c
p:P1995 wd:statement/Q558077-8F1A3B7D-AC95-4288-B8DE-CF1ECF1186A9
wd:statement/Q558077-f2ffe5f7-4db4-de3c-5c16-ce87af7987fe
p:P2013 wd:statement/Q558077-08095915-4043-df9f-9f15-24ba94e1698f
p:P2163 wd:statement/Q558077-f586f1b0-4ab0-7f7a-0984-f983a5fa74c4
p:P227 wd:statement/Q558077-C3E9CEC1-E9C7-4A75-9EB5-BEB4FD7B7286
p:P2293 wd:statement/Q558077-07307804-1D1D-40A7-8267-8E16356184C8
wd:statement/Q558077-1D5EAF96-BAD0-48F3-826C-A5631BC6D9F1
wd:statement/Q558077-251E8C66-02BA-48F4-876C-4E00E9AFAA9E
wd:statement/Q558077-29BBF69C-8C63-4799-A4D8-9DCD6AD95A7A
wd:statement/Q558077-37C402D8-F333-49F1-9A63-41DE22ED6D57
wd:statement/Q558077-3A9367FA-D269-4A62-969E-2367BD319453
wd:statement/Q558077-57CC3AA9-9BB1-45B5-9872-2B77DDA93B3E
wd:statement/Q558077-81D84031-820F-4DFD-8EF1-056928899C3E
wd:statement/Q558077-824E4789-C221-4217-9E72-822AB960D14D
wd:statement/Q558077-84A211AE-9392-4976-932C-D152D2CA2360
wd:statement/Q558077-A1A3E9BF-001A-404E-9B8B-D41BF2735A7B
wd:statement/Q558077-B208BAE1-F6BA-421C-B9A7-DCA5FE5888FC
wd:statement/Q558077-C32A7CB7-6CC9-4C87-862C-B71F32EBF4A6
wd:statement/Q558077-DAC72C36-8D06-4863-8E02-B94C6BBA3098
wd:statement/Q558077-E7A6C73B-8E80-47C4-8471-5666CE034A50
wd:statement/Q558077-EA192809-9851-430E-9E46-8DBBFB7659F0
wd:statement/Q558077-F20F77C6-7736-4105-B428-A66912746901
wd:statement/Q558077-F33076F4-12D2-4DBC-8562-280B339A4ED9
p:P2347 wd:statement/Q558077-A4D1C31E-C602-4B21-8AD3-3B5890145D69
p:P244 wd:statement/Q558077-6f26e16b-89fc-49b8-8282-62a03b136dd6
p:P268 wd:statement/Q558077-723f8c0e-d433-43a1-a69c-9b392a24df6d
p:P2716 wd:statement/Q558077-D2D1909C-8838-4D84-BC8A-A73039A999BB
p:P279 wd:statement/Q558077-197A00AC-B4C7-4245-9515-4A7E8B2610C8
wd:statement/Q558077-1E71C64C-3E03-43CC-918D-6495CDBC55FD
wd:statement/Q558077-5A1CEF92-C07F-44D0-877C-6DAC980EB634
wd:statement/Q558077-5A5B774F-21FE-423E-A59E-F57A57E4A0DE
wd:statement/Q558077-638a8947-4b16-5761-ed97-328a78ff266e
wd:statement/Q558077-6AE3AF19-1E6B-4957-A4D1-D3D5A8BA7568
wd:statement/Q558077-6C546FC7-298C-4F10-BDE4-657645EC97D8
wd:statement/Q558077-6F555BE2-CAC5-42B1-9214-9EF0F152E67B
wd:statement/Q558077-7017703D-4B5F-4D34-9025-0963B4D0F5DD
wd:statement/Q558077-72831F88-3C6A-4B31-9C9C-AC7D4970C755
wd:statement/Q558077-7586E4A4-E68C-47EB-A24C-7F4906A7E899
wd:statement/Q558077-86B1502C-9239-4691-AA34-085F2FEADEFA
wd:statement/Q558077-BA02F219-0A1E-4FE0-854D-563B0ABD9FDF
wd:statement/Q558077-F4A12F5F-4C8A-4278-8EAA-957B6591EA34
wd:statement/Q558077-F828B158-BB92-490C-BCCD-AF1935EB2508
wd:statement/Q558077-FA015489-E72D-487D-9832-1477BCB9204A
p:P2841 wd:statement/Q558077-1DD45189-B843-4FB1-8CD9-A22AE3FD3B55
wd:statement/Q558077-E1FA0892-EB6A-46F5-9E66-7CD7508FD068
p:P2888 wd:statement/Q558077-0C9E39D4-B0FF-4FE6-AC2C-464B569CFDB9
wd:statement/Q558077-B3180769-40C9-492A-8010-DBDF2B5350A1
wd:statement/Q558077-F0A8AEC8-444B-489C-8434-472B95520020
p:P2892 wd:statement/Q558077-FC4D00DD-FC5B-40E4-A85E-025FCFA15FAF
p:P31 wd:statement/Q558077-8e03db7d-49bd-c0e6-ab96-ebbe33f452cb
wd:statement/Q558077-EB0C5A54-36F1-4401-B282-F3A506F8ED5F
wd:statement/Q558077-F1B35C20-B0E7-4929-B57D-19EE2FD321D6
p:P3417 wd:statement/Q558077-4A7A7C46-CC3B-4E59-B551-E66CCFF3DD91
p:P3471 wd:statement/Q558077-CDB30AEE-78AA-46E2-BE82-8F29F57D8BCA
p:P349 wd:statement/Q558077-9103F7AF-1594-4E35-BC0B-608956EB7750
p:P373 wd:statement/Q558077-de6ce313-48f2-3020-8f9d-e77f79d07cbc
p:P3827 wd:statement/Q558077-0E73861E-AF12-41F3-B351-C5624D8AC731
p:P4229 wd:statement/Q558077-21306BD1-E85B-4971-87CA-7E07A9727284
p:P4233 wd:statement/Q558077-29d16cc3-42be-6fe5-a2bd-7d210cf504b3
p:P4317 wd:statement/Q558077-ECF035D0-6AAB-49D8-8304-3BFF6E8B2030
p:P4527 wd:statement/Q558077-CFC4AA95-C74A-4420-970C-263827E1A6CE
p:P486 wd:statement/Q558077-5C42AFAE-33EC-490B-B238-4319F6BD9720
p:P492 wd:statement/Q558077-57F0170F-F4C7-4B26-8858-8747E90CDF12
p:P493 wd:statement/q558077-685DF5D1-F669-4D9A-804E-6B95BED43741
p:P494 wd:statement/q558077-2F20576A-2C61-4913-8AD7-772184C24A00
p:P5008 wd:statement/Q558077-EF5909FB-A357-413A-8782-DFF91D4F5514
p:P508 wd:statement/q558077-463109D9-42A1-4859-82BA-829AD9840C1B
p:P5270 wd:statement/Q558077-5E61997D-8636-4C2E-839A-112279F4BA98
p:P557 wd:statement/Q558077-352C8C5D-DAAE-4EF0-9116-1FA7EC34C0C4
p:P604 wd:statement/q558077-DA5C60C1-D92F-457A-98A5-161377596B15
p:P61 wd:statement/q558077-74df5c69-4ce5-c42f-c15f-949aecfb23a0
p:P6366 wd:statement/Q558077-BDE74502-FB15-4663-860B-EDFFB7999FB8
wd:statement/Q558077-D46E6B7C-C6E6-48CB-A9F3-9B354360F8D4
p:P646 wd:statement/Q558077-894B16AC-7E59-4194-8C67-986E78328182
p:P6532 wd:statement/Q558077-0AA71E91-2AD7-4EAC-9264-B18DA4BED46F
wd:statement/Q558077-2A4E94E4-B96A-48A6-A6FD-9F66CD002C8F
wd:statement/Q558077-2F59DADD-0B36-4697-B35E-59BD0EC4DF27
wd:statement/Q558077-65A833CD-61BC-4075-B0E8-E70FAF307155
wd:statement/Q558077-66131C90-B521-4A78-9F0B-239BA50A8DC3
wd:statement/Q558077-6FAA84DD-D630-4814-A3F2-2CC2DEF5400A
wd:statement/Q558077-7EEB6F0B-6E71-422C-9A8F-D68E6E868495
wd:statement/Q558077-8DD3DE3E-058A-40E9-8635-7CF3F0C6A9CD
wd:statement/Q558077-C796517B-666B-41A6-AB46-3AAED7B18292
wd:statement/Q558077-C8AC44CB-1AE2-491F-8982-0A18A3C13011
wd:statement/Q558077-D1811CBE-5FEF-49CB-A465-0E2B9F0CFD1D
wd:statement/Q558077-E9F14FD4-B677-473A-A1E2-96B277CCA7B2
wd:statement/Q558077-FB8487CB-9F86-4069-9CC2-39FFF477C9D5
wd:statement/Q558077-FF06104E-A495-49F9-B596-981C979EC2F1
p:P665 wd:statement/Q558077-599C9B26-CB6C-405E-A7E0-8881FBDA963F
p:P668 wd:statement/Q558077-8017a9d9-469b-f80b-0b8e-d5b46fec31b0
p:P672 wd:statement/Q558077-44250FBC-8AFD-42BB-9D33-7CAABEF6D515
wd:statement/Q558077-7EB170CC-25F6-420E-BF55-64CC3998CC88
wd:statement/Q558077-89BF3FE1-90CA-4E56-B83D-B99C48CE968F
wd:statement/Q558077-93F977FE-0962-4AB6-9136-198FB9EF8C7F
p:P673 wd:statement/q558077-9B4C09C1-45B2-44A0-8315-7C1FCB4A3792
p:P691 wd:statement/Q558077-633C57BD-FF41-42AD-AA9A-99CAAFDE32C6
p:P699 wd:statement/Q558077-3BE9BE09-4D1E-4A09-993E-18C32B2F9038
p:P7464 wd:statement/Q558077-32B47CB4-EF4D-406C-85EA-800018C17455
p:P780 wd:statement/Q558077-aaeae67f-462f-4fe9-b100-51f0b14d2a10
p:P7807 wd:statement/Q558077-63D628FA-2E7B-4F5E-A159-62B3A454FB53
p:P8189 wd:statement/Q558077-D9D65EEE-282C-45EF-9630-2103E5214550
p:P8313 wd:statement/Q558077-AD29106C-1041-44D8-8EFA-638CEC045EBD
p:P8408 wd:statement/Q558077-022B310A-BA3B-4BFC-8394-1567EECD9FB8
p:P8885 wd:statement/Q558077-9525f1de-49ba-52a8-a7b5-a90a66e22018
p:P9827 wd:statement/Q558077-d0f8eb8a-43f2-30eb-8e3f-ec027669a88e
p:direct-normalized/P1617 <http://www.bbc.co.uk/things/9a0a1967-183c-411a-9b45-b8bddb482854#id>
p:direct-normalized/P2163 <http://id.worldcat.org/fast/1175481>
p:direct-normalized/P227 <https://d-nb.info/gnd/4323165-2>
p:direct-normalized/P2347 <http://www.yso.fi/onto/yso/p38846>
p:direct-normalized/P244 <http://id.loc.gov/authorities/names/sh98004230>
p:direct-normalized/P268 <http://data.bnf.fr/ark:/12148/cb13540439d#about>
p:direct-normalized/P349 <http://id.ndl.go.jp/auth/ndlna/01196757>
p:direct-normalized/P4527 <http://data.parliament.uk/terms/434614>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D018980>
p:direct-normalized/P508 <http://purl.org/bncf/tid/5062>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008678>
p:direct-normalized/P6366 <https://makg.org/entity/2781240822>
<https://makg.org/entity/2908753905>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01439>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C10.597.606.360.970>
<http://id.nlm.nih.gov/mesh/C14.280.484.150.535.960>
<http://id.nlm.nih.gov/mesh/C16.131.260.970>
<http://id.nlm.nih.gov/mesh/C16.320.180.970>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:1928>
p:direct-normalized/P8408 <http://kbpedia.org/kko/rc/WilliamsSyndrome>
p:direct-normalized/P9827 <http://purl.obolibrary.org/obo/GSSO_006997>
wdt:P10 <http://commons.wikimedia.org/wiki/Special:FilePath/Spontaneous-and-cued-gaze-following-in-autism-and-Williams-syndrome-1866-1955-5-13-S4.ogv>
wdt:P10283 "C2781240822"
wdt:P1036 "616.042"
"618.920042"
wdt:P11143 "Williams syndrome"
wdt:P1193 0.0003^^xsd:decimal
wdt:P1325 <http://www.nanbyou.or.jp/entry/4765>
wdt:P13591 "concept/8c65753b-43b7-4268-afcf-861aa6c59f98"
wdt:P138 John Cyprian Phipps Williams
wdt:P14914 "D00904"
wdt:P1550 "904"
wdt:P1617 "9a0a1967-183c-411a-9b45-b8bddb482854"
wdt:P1692 "759.89"
wdt:P1748 "C85232"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Four%20kids%20with%20Williams%20syndrome.jpg>
wdt:P1995 medical genetics
pediatrics
wdt:P2013 "Williams.Syndrome.Israel"
wdt:P2163 "1175481"
wdt:P227 "4323165-2"
wdt:P2293 ELN
GTF2I
LIMK1
RFC2
STX1A
EIF4H
CLIP2
FKBP6
BAZ1B
GTF2IRD1
TBL2
GTF2IRD2
DNAJC30
BUD23
TMEM270
METTL27
VPS37D
NCF1
wdt:P2347 "38846"
wdt:P244 "sh98004230"
wdt:P268 "13540439d"
wdt:P2716 <http://commons.wikimedia.org/wiki/Special:FilePath/Williams%20syndromeCCBY.jpg>
wdt:P279 supravalvular aortic stenosis
chromosomal deletion syndrome
autosomal dominant disease
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
syndromic developmental defect of the eye
malformation syndrome with short stature
rare syndrome with cardiac malformations
genetic hypertension
rare abdominal surgical disease
genetic syndromic intellectual disability
partial deletion of the long arm of chromosome 7
motor stereotypies
syndromic epicanthus
wdt:P2841 congenital onset
neonatal onset
wdt:P2888 <http://identifiers.org/doid/DOID:1928>
<http://purl.obolibrary.org/obo/DOID_1928>
<http://www.orpha.net/ORDO/Orphanet_904>
wdt:P2892 "C0175702"
wdt:P31 type of disease
designated intractable/rare disease
rare disease
wdt:P3417 "Williams-Beuren-Syndrome"
wdt:P3471 "17874"
wdt:P349 "01196757"
wdt:P373 "Williams syndrome"
wdt:P3827 "williams-syndrome"
wdt:P4229 "Q87.8"
wdt:P4233 "williams-syndrome"
wdt:P4317 "7891"
wdt:P4527 "434614"
wdt:P486 "D018980"
wdt:P492 "194050"
wdt:P493 "758.9"
wdt:P494 "Q93.8"
wdt:P5008 WikiProject Medicine
wdt:P508 "5062"
wdt:P5270 "MONDO_0008678"
wdt:P557 "859"
wdt:P604 "001116"
wdt:P61 John Cyprian Phipps Williams
wdt:P6366 "2781240822"
"2908753905"
wdt:P646 "/m/01dwrw"
wdt:P6532 celiac disease
Full cheeks
Recurrent otitis media
Premature graying of hair
Feeding difficulties in infancy
Impaired visuospatial constructive cognition
micropenis
tooth agenesis
cutis laxa
kyphoscoliosis
behavioral abnormality
Hypotelorism
renal artery obstruction
sudden death
wdt:P665 "H01439"
wdt:P668 "NBK1249"
wdt:P672 "C10.597.606.360.970"
"C14.280.484.150.535.960"
"C16.131.260.970"
"C16.320.180.970"
wdt:P673 "893149"
wdt:P691 "ph637817"
wdt:P699 "DOID:1928"
wdt:P7464 "williams-syndrome"
wdt:P780 supravalvular aortic stenosis
wdt:P7807 "1644383468"
wdt:P8189 "987007532654405171"
wdt:P8313 "Williams_syndrom"
wdt:P8408 "WilliamsSyndrome"
wdt:P8885 "윌리엄스 증후군"
wdt:P9827 "006997"
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata