Disease #07210 (scoliosis (scoliosis))

Official abbreviation	scoliosis
Name	scoliosis
OMIM ID	-
Inheritance	-
Individuals reported having this disease	70
Phenotype entries for this disease	70
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2025-12-05 11:13:58 +01:00 (CET)
Date last edited	N/A

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

70 entries on 1 page. Showing entries 1 - 70.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00470640	Pat1	PubMed: Horbacz 2025	patient, affected maternal uncle	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain;	-	BCKDHB, THBS3, WDR81	3	1	Johan den Dunnen
00470641	Pat2	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms;	-	ALOXE3, GJA3, MARS, TRPV4, WFS1	5	1	Johan den Dunnen
00470642	Pat3	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain, paraparesis; lipoma;	-	ATP13A2, TGFBR2	2	1	Johan den Dunnen
00470643	Pat4	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms;	-	ALOXE3, CLCN1	2	1	Johan den Dunnen
00470644	Pat5	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms;	-	C11orf80, TMEM231, WDR65	3	1	Johan den Dunnen
00470645	Pat6	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; anorexia, depression;	-	EXT2, TMEM231	2	1	Johan den Dunnen
00470646	Pat7	PubMed: Horbacz 2025	patient, affected mother	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms;	-	TUBB4A	1	1	Johan den Dunnen
00470647	Pat8	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms;	-	CLCN1, GALNS, KCNJ16, POP1	4	1	Johan den Dunnen
00470648	Pat9	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; allergy; no physical activity	-	MUTYH, TMEM43	2	1	Johan den Dunnen
00470649	Pat10	PubMed: Horbacz 2025	patient, affected sister	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; psoriasis; physical activity	-	UPB1	1	1	Johan den Dunnen
00470650	Pat11	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, knee problems; no symptoms; physical activity	-	PIK3C2G	1	1	Johan den Dunnen
00470651	Pat12	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, pigeon-toe R/L foot ; no symptoms; no physical activity	-	ADAMTS13, FGD4	2	1	Johan den Dunnen
00470652	Pat13	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	CNGA1, DNHD1, FLNB	3	1	Johan den Dunnen
00470653	Pat14	PubMed: Horbacz 2025	patient, affected maternal uncle	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; Ladd syndrome; physical activity	-	ATP7B, CCDC40, GJB2	3	1	Johan den Dunnen
00470654	Pat15	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, pectus excavatum; no symptoms; no physical activity	-	KLLN, MAN2B1, OTOG, RPGRIP1L	4	1	Johan den Dunnen
00470655	Pat16	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms;	-	DHODH, MYH7, OBSL1, TRMT5	4	1	Johan den Dunnen
00470656	Pat17	PubMed: Horbacz 2025	patient, affected sisters	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	ERCC2, FSCN2, HK2	3	1	Johan den Dunnen
00470657	Pat18	PubMed: Horbacz 2025	patient, affected mother and father	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity; mother scoliosis, spondylolisthesis; father scoliosis	-	FSD2, LAMA2, TMPRSS3	3	1	Johan den Dunnen
00470658	Pat19	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	ALDH18A1, C3AR1, KCNQ1	3	1	Johan den Dunnen
00470659	Pat20	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis;	-	GJB2, GPR1, NEB, TGM5	4	1	Johan den Dunnen
00470660	Pat21	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	ENAM, ZP3	2	1	Johan den Dunnen
00470661	Pat22	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	FLNB	1	1	Johan den Dunnen
00470662	Pat23	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain, paresthesia; no physical activity	-	ATG9B, CROT, SLC7A8	3	1	Johan den Dunnen
00470663	Pat24	PubMed: Horbacz 2025	patient, affected mother, sister, maternal grandmother	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	FLG, PNPLA1	2	1	Johan den Dunnen
00470664	Pat25	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	DNAH11, ENAM	2	1	Johan den Dunnen
00470665	Pat26	PubMed: Horbacz 2025	patient, affected maternal aunt	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	RYR1, SLC5A2	2	1	Johan den Dunnen
00470666	Pat27	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	A2ML1, HERC4, PAH, SLC26A3, WEE2	5	1	Johan den Dunnen
00470667	Pat28	PubMed: Horbacz 2025	patient, affected parent	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	-	-	1	Johan den Dunnen
00470668	Pat29	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	-	-	1	Johan den Dunnen
00470669	Pat30	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	POMC, SLC26A2	2	1	Johan den Dunnen
00470670	Pat31	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	C8B, ENAM, HADHA	3	1	Johan den Dunnen
00470671	Pat32	PubMed: Horbacz 2025	patient, affected paternal aunt	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	ARMC4, FANCF, GALT, SPR	4	1	Johan den Dunnen
00470672	Pat33	PubMed: Horbacz 2025	patient, affected mother	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	ADAMTSL4, BCHE	2	1	Johan den Dunnen
00470673	Pat34	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	FOXRED1	1	1	Johan den Dunnen
00470674	Pat35	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	ADAR, CFTR	2	1	Johan den Dunnen
00470675	Pat36	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	-	-	1	Johan den Dunnen
00470676	Pat37	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	SPTLC3	1	1	Johan den Dunnen
00470677	Pat38	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	RFC1	1	1	Johan den Dunnen
00470678	Pat39	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	HTT, MIB1, RET, SPATA5L1, SPG7	5	1	Johan den Dunnen
00470679	Pat40	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	ACADVL, ATP7A, FANCA, REC8, TMEM67, TOR3A	6	1	Johan den Dunnen
00470680	Pat41	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; tonsil removal; physical activity	-	EPHA4, FANCL, GJB2, SLCO1B3	4	1	Johan den Dunnen
00470681	Pat42	PubMed: Horbacz 2025	patient, affected mother	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, pectus excavatum; back pain; cryptorchidism; physical activity	-	ACTL6B, CEL, PAH, PMM2, SLC34A1, XDH	6	1	Johan den Dunnen
00470682	Pat43	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	GALE, RFESD, SLCO1B3, SPATA9, TRNT1	4	1	Johan den Dunnen
00470683	Pat44	PubMed: Horbacz 2025	patient, affected mother	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; cleft lip; physical activity	-	ABCB1, ACAD8, SPG11, VWA8	4	1	Johan den Dunnen
00470684	Pat45	PubMed: Horbacz 2025	patient, affected mother and maternal grandmother	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	ANGPTL1, CALML4, DCT, HK1, TBCE, TRPM1	6	1	Johan den Dunnen
00470685	Pat46	PubMed: Horbacz 2025	patient, affected maternal grandmother	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	BMP5, CLIP1, DMD, EPS8L2, GNRHR, NALCN, PTS, TRIOBP, TRMT5, UGT1A7	10	1	Johan den Dunnen
00470686	Pat47	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	AGBL2, CNGB3, ELAC2	3	1	Johan den Dunnen
00470687	Pat48	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, flat feet; back pain; vision defect; physical activity	-	ENAM, FLNB, MYH7, OIT3	4	1	Johan den Dunnen
00470688	Pat49	PubMed: Horbacz 2025	patient, affected mother, maternal uncle, maternal grandfather	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	GALC, PANK2, PANK4, SLC2A1	4	1	Johan den Dunnen
00470689	Pat50	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain, respiratory difficulties; physical activity	-	ANO5, ECM1, LARS, TSC2	4	1	Johan den Dunnen
00470690	Pat51	PubMed: Horbacz 2025	patient, affected mother and father	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	HSD17B3	1	1	Johan den Dunnen
00470691	Pat52	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; physical activity	-	PAN2	1	1	Johan den Dunnen
00470692	Pat53	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	BARD1, FGD1	2	1	Johan den Dunnen
00470693	Pat54	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, Osgood-Schlatter disease ; no symptoms; tonsil removal; no physical activity	-	KIF13B, PEX6, PMM2	3	1	Johan den Dunnen
00470694	Pat55	PubMed: Horbacz 2025	patient, affected maternal grandmother	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; physical activity	-	A2ML1, ABCC6, AP5Z1, BARHL1, CHEK2	5	1	Johan den Dunnen
00470695	Pat56	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; physical activity	-	C9, CRYBA2, MPO, PIK3C2G	4	1	Johan den Dunnen
00470696	Pat57	PubMed: Horbacz 2025	patient, affected mother	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; no physical activity	-	A2ML1, F12	2	1	Johan den Dunnen
00470697	Pat58	PubMed: Horbacz 2025	patient, affected father	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; no physical activity	-	EIF2AK3, RIT1, SLC25A23, TYR	4	1	Johan den Dunnen
00470698	Pat59	PubMed: Horbacz 2025	patient, affected paternal aunt, paternal grandmother, maternal grandmother, maternal aunt, maternal cousin	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; depression; no physical activity	-	DOPEY2, FANCM, KIAA1984	3	1	Johan den Dunnen
00470699	Pat60	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; depression; no physical activity	-	ATP7B, DHODH, DNAJC30, ERCC2, OBSL1, PANK2, SGSH, WDR35	8	1	Johan den Dunnen
00470700	Pat61	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, incorrect pelvis rotation ; no symptoms; no physical activity	-	AGXT, C2, DNAH14, GDF1, PROP1, TRNT1	6	1	Johan den Dunnen
00470701	Pat62	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; asperger syndrome; no physical activity	-	APOE, CRB1, DNHD1, PROM1	4	1	Johan den Dunnen
00470702	Pat63	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity	-	BLM, COL6A2, DYNC1I2, LIPT1, MEGF10, SLC44A1	6	1	Johan den Dunnen
00470703	Pat64	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; Gilbert's syndrome; no physical activity	-	CDON, DHCR7, LMNA, MPO, RNASEH2C	5	1	Johan den Dunnen
00470704	Pat65	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity	-	APOE, CTRB2, TRIT1, ZFYVE19	4	1	Johan den Dunnen
00470705	Pat66	PubMed: Horbacz 2025	patient, affected mother and father	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain, respiratory difficulties, myoclonus; physical activity	-	CNGA1, DSG4, MPO, SLC11A2	4	1	Johan den Dunnen
00470706	Pat67	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; physical activity	-	DOPEY2, DPYD, ERCC2, NDUFB3, PEPD, TP63	6	1	Johan den Dunnen
00470707	Pat68	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; no physical activity	-	ADAMTSL4, MTCH2, ZNF142	3	1	Johan den Dunnen
00470708	Pat69	PubMed: Horbacz 2025	patient, affected father	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; back pain; aphasia; no physical activity	-	CAPN3, GCKR, PLOD2, RNASEH2C	4	1	Johan den Dunnen
00470709	Pat70	PubMed: Horbacz 2025	patient, affected	M	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms; arterial hypertension; no physical activity	-	LIPE, RYR1	2	1	Johan den Dunnen

Legend

How to query