Disease #01325 (EXT1 (exostoses, congenital, multiple, type 1 (EXT1)), OMIM:133700)

Official abbreviation	EXT1
Name	exostoses, congenital, multiple, type 1 (EXT1)
OMIM ID	133700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	99
Phenotype entries for this disease	94
Associated with 1 gene	EXT1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-09-30 11:12:15 +02:00 (CEST)

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.

99 entries on 1 page. Showing entries 1 - 99.

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
00081272	-	-	-	-	-	Germany	-	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00103216	-	-	-	-	-	Germany	-	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00104711	-	-	-	F	-	Germany	-	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00118089	-	PubMed: Sfar 2009	-	F	-	Tunisia	Tunisian	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Sana Sfar
00118552	-	-	-	F	-	-	-	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Caroline Janel
00118557	-	-	-	F	-	-	-	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Caroline Janel
00165193	-	-	-	-	-	-	-	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00208634	FamEXT1_01_pt1	PubMed: Fusco 2019	family, 2 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	2	Carmela Fusco
00208635	FamEXT1_02_a_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	10y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses hand (HP:0004276), left carpals; exostoses leg, bilateral knees; exostoses chest, ribs	EXT1	EXT1	1	1	Carmela Fusco
00208636	FamEXT1_02_b_pt1	PubMed: Fusco 2019	family, 2 affected	F	-	Italy	white	10y	-	-	-	EXT1	multiple exostoses (HP:0002762); right arm humerus; exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, bilateral fibula; exostoses chest, left scapula	EXT1	EXT1	1	2	Carmela Fusco
00208637	FamEXT1_02_b_pt2	PubMed: Fusco 2019	-	F	-	Italy	white	45y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses foot, bilateral talus	EXT1	EXT1	1	1	Carmela Fusco
00208638	FamEXT1_03_pt1	PubMed: Fusco 2019	family, 3 affected	F	-	Italy	white	36y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, left femur/thigh bones, left fibula, left tibia/shin bone	EXT1	EXT1	1	3	Carmela Fusco
00208639	FamEXT1_03_pt2	PubMed: Fusco 2019	-	M	-	Italy	white	4y	-	-	-	EXT1	multiple exostoses (HP:0002762); arm humerus; exostoses hand (HP:0004276), bilateral phalanges; exostoses leg, femur/thigh bones; exostoses vertebrae, cervical	EXT1	EXT1	1	1	Carmela Fusco
00208640	FamEXT1_03_pt3	PubMed: Fusco 2019	-	F	-	Italy	white	19y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, femur/thigh bones	EXT1	EXT1	1	1	Carmela Fusco
00208641	FamEXT1_04_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208642	FamEXT1_05_pt1	PubMed: Fusco 2019	family, 2 affected	F	-	Italy	white	45y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses radius (HP:0003986)	EXT1	EXT1	1	2	Carmela Fusco
00208643	FamEXT1_06_pt1	PubMed: Fusco 2019	family, 4 affected	M	-	Italy	white	18y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, fibula, tibia/shin bone; exostoses foot, talus	EXT1	EXT1	1	4	Carmela Fusco
00208644	FamEXT1_06_pt2	PubMed: Fusco 2019	-	F	-	Italy	white	18y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, bilateral knees, bilateral fibula, bilateral tibia/shin bone	EXT1	EXT1	1	1	Carmela Fusco
00208645	FamEXT1_07_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208646	FamEXT1_08_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	47y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, fibula, tibia/shin bone; exostoses foot, calcaneus; exostoses chest, scapula	EXT1	EXT1	1	1	Carmela Fusco
00208647	FamEXT1_09_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208648	FamEXT1_10_a_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	8y	-	-	-	EXT1	multiple exostoses (HP:0002762); right arm humerus; exostoses right radius (HP:0003986); exostoses hand (HP:0004276), left phalanges; exostoses leg, left tibia/shin bone; exostoses foot, left talus	EXT1	EXT1	1	1	Carmela Fusco
00208649	FamEXT1_10_b_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	16y	-	-	-	EXT1	multiple exostoses (HP:0002762); right arm humerus; exostoses right radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone	EXT1	EXT1	1	1	Carmela Fusco
00208650	FamEXT1_11_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208651	FamEXT1_12_pt1	PubMed: Fusco 2019	family, 2 affected	F	-	Italy	white	13y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, bilateral femur/thigh bones, right fibula, right tibia/shin bone; exostoses chest, right scapula	EXT1	EXT1	1	2	Carmela Fusco
00208652	FamEXT1_12_pt2	PubMed: Fusco 2019	-	M	-	Italy	white	37y	-	-	-	EXT1	multiple exostoses (HP:0002762); right arm humerus; exostoses right radius (HP:0003986); exostoses right ulna (HP:0003985); exostoses leg, right femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, left calvicular, left ribs	EXT1	EXT1	1	1	Carmela Fusco
00208653	FamEXT1_13_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	7y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, right tibia/shin bone; intellectual disability; myopathy; bilateral hallux valgus	EXT1	EXT1	1	1	Carmela Fusco
00208654	FamEXT1_14_pt1	PubMed: Fusco 2019	family, 2 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	2	Carmela Fusco
00208655	FamEXT1_15_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208656	FamEXT1_16_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208657	FamEXT1_17_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208658	FamEXT1_18_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208659	FamEXT1_19_pt1	PubMed: Fusco 2019	2 families, 3 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	3	Carmela Fusco
00208660	FamEXT1_20_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208661	FamEXT1_21_pt1	PubMed: Fusco 2019	2 families, 2 affected	M	-	Italy	white	10y	-	-	-	EXT1	multiple exostoses (HP:0002762); arm humerus; exostoses radius (HP:0003986); exostoses ulna (HP:0003985); exostoses leg, femur/thigh bones, knee, fibula, tibia/shin bone	EXT1	EXT1	1	2	Carmela Fusco
00208662	FamEXT1_22_pt1	PubMed: Fusco 2019	2 families, 2 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	2	Carmela Fusco
00208663	FamEXT1_23_pt1	PubMed: Fusco 2019	3 families, 3 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	3	Carmela Fusco
00208664	FamEXT1_24_a_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	17y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; exostoses right radius (HP:0003986); exostoses right ulna (HP:0003985); exostoses hand (HP:0004276); exostoses leg, bilateral knees, bilateral fibula, bilateral tibia/shin bone; exostoses foot, bilateral calcaneus, bilateral talus; exostoses chest, scapula	EXT1	EXT1	1	1	Carmela Fusco
00208665	FamEXT1_24_b_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	20y	-	-	-	EXT1	multiple exostoses (HP:0002762); arm humerus; exostoses hand (HP:0004276), bilateral phalanges; exostoses chest, scapula, ribs	EXT1	EXT1	1	1	Carmela Fusco
00208666	FamEXT1_24_c_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	12y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, femur/thigh bones	EXT1	EXT1	1	1	Carmela Fusco
00208667	FamEXT1_24_d_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	16y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, knee; exostoses chest, calvicular	EXT1	EXT1	1	1	Carmela Fusco
00208668	FamEXT1_25_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	50y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, bilateral tibia/shin bone; exostoses foot, calcaneus, talus; exostoses chest, scapula, ribs	EXT1	EXT1	1	1	Carmela Fusco
00208669	FamEXT1_26_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208670	FamEXT1_27_pt1	PubMed: Fusco 2019	family, 2 affected	M	-	Italy	white	15y	-	-	-	EXT1	multiple exostoses (HP:0002762); left arm humerus; exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone; exostoses chest, ribs	EXT1	EXT1	1	2	Carmela Fusco
00208671	FamEXT1_27_pt2	PubMed: Fusco 2019	-	M	-	Italy	white	47y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral knees, bilateral fibula, bilateral tibia/shin bone; exostoses chest, ribs	EXT1	EXT1	1	1	Carmela Fusco
00208672	FamEXT1_28_pt1	PubMed: Fusco 2019	family, 2 affected	F	-	Italy	white	58y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone; exostoses chest, bilateral ribs	EXT1	EXT1	1	2	Carmela Fusco
00208673	FamEXT1_28_pt2	PubMed: Fusco 2019	-	F	-	Italy	white	23y	-	-	-	EXT1	multiple exostoses (HP:0002762); arm humerus; exostoses leg, femur/thigh bones	EXT1	EXT1	1	1	Carmela Fusco
00208674	FamEXT1_29_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208675	FamEXT1_30_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	6y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses hand (HP:0004276), bilateral phalanges; mild intellectual disability	EXT1	EXT1	1	1	Carmela Fusco
00208676	FamEXT1_31_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	35y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses hand (HP:0004276), left metacarpals, left phalanges; exostoses leg, left femur/thigh bones, left fibula, left tibia/shin bone; exostoses chest, bilateral ribs	EXT1	EXT1	1	1	Carmela Fusco
00208677	FamEXT1_32_pt1	PubMed: Fusco 2019	family, 2 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	2	Carmela Fusco
00208678	FamEXT1_33_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	50y	-	-	-	EXT1	multiple exostoses (HP:0002762); arm humerus; exostoses ulna (HP:0003985)	EXT1	EXT1	1	1	Carmela Fusco
00208679	FamEXT1_34_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208680	FamEXT1_35_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208681	FamEXT1_36_pt1	PubMed: Fusco 2019	family, 2 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	2	Carmela Fusco
00208682	FamEXT1_37_pt1	PubMed: Fusco 2019	family, 2 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	2	Carmela Fusco
00208683	FamEXT1_38_pt1	PubMed: Fusco 2019	family, 2 affected	F	-	Italy	white	-	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, bilateral femur/thigh bones	EXT1	EXT1	1	2	Carmela Fusco
00208684	FamEXT1_38_pt2	PubMed: Fusco 2019	-	M	-	Italy	white	65y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses leg, bilateral knees, right fibula	EXT1	EXT1	1	1	Carmela Fusco
00208685	FamEXT1_39_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	7y	-	-	-	EXT1	multiple exostoses (HP:0002762); arm humerus	EXT1	EXT1	1	1	Carmela Fusco
00208686	FamEXT1_40_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208687	FamEXT1_41_pt1	PubMed: Fusco 2019	family, 2 affected	F	-	Italy	white	23y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses hand (HP:0004276), left carpals; exostoses leg, bilateral knees, left fibula, left tibia/shin bone; exostoses foot, left calcaneus; exostoses chest, right scapula, right ribs	EXT1	EXT1	1	2	Carmela Fusco
00208688	FamEXT1_41_pt2	PubMed: Fusco 2019	-	F	-	Italy	white	63y	-	-	-	EXT1	multiple exostoses (HP:0002762)	EXT1	EXT1	1	1	Carmela Fusco
00208689	FamEXT1_42_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208690	FamEXT1_43_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	humerus, radius (HP:00039), ulna (HP:00039), femur, knee, fibula, tibia	EXT1	EXT1	1	1	Carmela Fusco
00208691	FamEXT1_44_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	47y	-	-	-	EXT1	multiple exostoses (HP:0002762); arm humerus; exostoses radius (HP:0003986); exostoses ulna (HP:0003985); exostoses leg, femur/thigh bones, knee, fibula, tibia/shin bone	EXT1	EXT1	1	1	Carmela Fusco
00208692	FamEXT1_45_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	38y	-	-	-	EXT1	multiple exostoses (HP:0002762); left arm humerus; bilateral exostoses radius (HP:0003986); exostoses leg, bilateral femur/thigh bones, bilateral fibula, right tibia/shin bone; exostoses foot, right talus; exostoses chest, left scapula, left ribs; chondrosarcoma of the distal right femoral	EXT1	EXT1	1	1	Carmela Fusco
00208693	FamEXT1_46_pt1	PubMed: Fusco 2019	2 families, 3 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	3	Carmela Fusco
00208694	FamEXT1_47_pt1	PubMed: Fusco 2019	2 families, 2 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	2	Carmela Fusco
00208695	FamEXT1_48_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208696	FamEXT1_49_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	13y	-	-	-	EXT1	multiple exostoses (HP:0002762); left arm humerus	EXT1	EXT1	1	1	Carmela Fusco
00208697	FamEXT1_50_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208698	FamEXT1_51_pt1	PubMed: Fusco 2019	family, 2 affected	F	-	Italy	white	26y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, femur/thigh bones, left fibula, bilateral tibia/shin bone; exostoses chest, right calvicular, bilateral scapula	EXT1	EXT1	1	2	Carmela Fusco
00208699	FamEXT1_51_pt2	PubMed: Fusco 2019	-	M	-	Italy	white	62y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses hand (HP:0004276), left phalanges; exostoses leg, bilateral knees	EXT1	EXT1	1	1	Carmela Fusco
00208700	FamEXT1_52_pt1	PubMed: Fusco 2019	2 families, 5 affected	M	-	Italy	white	31y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral knees, bilateral fibula, bilateral tibia/shin bone; exostoses vertebrae, bilateral cervical	EXT1	EXT1	1	5	Carmela Fusco
00208701	FamEXT1_53_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208702	FamEXT1_54_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208703	FamEXT1_55_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208704	FamEXT1_56_pt1	PubMed: Fusco 2019	family, 4 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	4	Carmela Fusco
00208705	FamEXT1_57_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	38y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral knees, bilateral fibula, bilateral tibia/shin bone; exostoses pelvis, bilateral ilium	EXT1	EXT1	1	1	Carmela Fusco
00208706	FamEXT1_58_pt1	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Carmela Fusco
00208707	FamEXT1_59_pt1	PubMed: Fusco 2019	2 families, 2 affected	-	-	Italy	white	-	-	-	-	EXT1	-	EXT1	EXT1	1	2	Carmela Fusco
00208708	FamEXT1_60_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	20y	-	-	-	EXT1	multiple exostoses (HP:0002762); bilateral arm humerus; exostoses chest, bilateral scapula	EXT1	EXT1	1	1	Carmela Fusco
00208709	FamEXT1_61_pt1	PubMed: Fusco 2019	2 families, 2 affected	M	-	Italy	white	25y	-	-	-	EXT1	multiple exostoses (HP:0002762); exostoses hand (HP:0004276), carpals; exostoses leg, left femur/thigh bones, left knee	EXT1	EXT1	1	2	Carmela Fusco
00229928	-	-	-	-	-	-	-	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00307254	-	-	-	-	-	-	-	-	-	-	-	EXT1	-	EXT1	EXT1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00382756	-	-	-	F	no	China	Asian	?	-	-	-	EXT1	-	-	EXT1	1	2	Yanhan Deng
00452848	NEFU_MMHG_MHE_1	-	Proband	F	no	Russian Federation	Russian	>10y	-	-	Surgery	EXT1	HP:0002762; HP:0003872; HP:0005039	EXT1	EXT1	1	1	Leonid R. Zhozhikov
00452944	NEFU_MMHG_MHE_6	-	Proband	F	no	Russia	Sakha (Yakut)	>15y	-	-	Surgery	EXT1	HP:0002762; HP:0003872; P:0004276; HP:0005039	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452945	NEFU_MMHG_MHE_7	-	Proband	M	yes	Russia	Sakha (Yakut)	>11y	-	-	-	EXT1	HP:0002762; HP:0000918; HP:0003872; HP:0005039	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452952	NEFU_MMHG_MHE_12	-	Proband	F	no	Russia	Russian	>05y	-	-	-	EXT1	HP:0002762; HP:0000918; HP: 0000896; HP:0003872; HP:0004276	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452968	NEFU_MMHG_MHE_26	-	Proband	F	no	Russia	Sakha (Yakut)	>20y	-	-	Surgery	EXT1	HP:0002762; HP:0000918; HP: 0000896; HP:0003872; HP:0004276; HP:0005039	EXT1, EXT2	EXT1	1	3	Leonid R. Zhozhikov
00452969	NEFU_MMHG_MHE_27	-	Mother	F	no	Russia	Sakha (Yakut)	>43y	-	-	-	EXT1	HP:0002762; HP:0003872; HP:0004276; HP:0003276; HP:0005039	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452970	NEFU_MMHG_MHE_28	-	Cousin	M	no	Russia	Sakha (Yakut)	>17y	-	-	-	EXT1	HP:0002762; HP:0000918; HP: 0000896; HP:0003872; HP:0004276; HP:0005039	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452971	NEFU_MMHG_MHE_29	-	Proband	M	no	Russia	Ukrainian	>09y	-	-	Surgery	EXT1	HP:0002762; HP:0000918; HP:0003872; HP:0004276; HP:0005039	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452976	NEFU_MMHG_MHE_34	-	Proband	M	no	Russia	Russian	>21y	-	-	-	EXT1	HP: 0100777	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452977	NEFU_MMHG_MHE_35	-	Proband	F	no	Russia	Sakha (Yakut)	>05y	-	-	-	EXT1	HP:0002762; HP: 0000896; HP: 0003872; HP:0004276; HP:0005039; HP:0004276	EXT1, EXT2	EXT1	1	3	Leonid R. Zhozhikov
00452978	NEFU_MMHG_MHE_36	-	Sibs	F	no	Russia	Sakha (Yakut)	>15y	-	-	Surgery	EXT1	HP:0002762; HP: 0003872; HP:0004276; HP:0005039	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452979	NEFU_MMHG_MHE_37	-	Mother	F	no	Russia	Sakha (Yakut)	>42y	-	-	-	EXT1	HP:0002762; HP:0005039	EXT1, EXT2	EXT1	1	1	Leonid R. Zhozhikov
00452989	NEFU_MMHG_MHE_48	-	Proband	F	no	Russia	Sakha (Yakut)	>02y	-	-	-	EXT1	HP:0002762; HP: 0000896; HP: 0003872; HP:0005039	EXT1, EXT2	EXT1	1	1	Daiaana Lebed

Legend

How to query

Global Variome shared LOVD