Disease #01326 (EXT2 (exostoses, multiple, type 2 (EXT-2)), OMIM:133701)

Official abbreviation	EXT2
Name	exostoses, multiple, type 2 (EXT-2)
OMIM ID	133701
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	80
Phenotype entries for this disease	79
Associated with 1 gene	EXT2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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'

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80 entries on 1 page. Showing entries 1 - 80.

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
00208710	FamEXT2_01_a_pt1	PubMed: Fusco 2019	family, 3 affected	F	-	Italy	white	32y	-	-	-	EXT2	multiple exostoses (HP:0002762); right arm humerus; exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone	EXT2	EXT2	1	3	Carmela Fusco
00208711	FamEXT2_01_a_pt2	PubMed: Fusco 2019	-	F	-	Italy	white	37y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, right ilium; lipomas	EXT2	EXT2	1	1	Carmela Fusco
00208712	FamEXT2_01_a_pt3	PubMed: Fusco 2019	-	M	-	Italy	white	13y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses leg, fibula, tibia/shin bone; exostoses chest, bilateral ilium; pseudonodular subcutaneous formations	EXT2	EXT2	1	1	Carmela Fusco
00208713	FamEXT2_01_c_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	45y	-	-	-	EXT2	multiple exostoses (HP:0002762); arm humerus; exostoses radius (HP:0003986); exostoses leg, tibia/shin bone	EXT2	EXT2	1	1	Carmela Fusco
00208714	FamEXT2_01_d_pt1	PubMed: Fusco 2019	family, 2 affected	M	-	Italy	white	9y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses leg, left femur/thigh bones	EXT2	EXT2	1	2	Carmela Fusco
00208715	FamEXT2_01_d_pt2	PubMed: Fusco 2019	-	F	-	Italy	white	13y	-	-	-	EXT2	multiple exostoses (HP:0002762); left arm humerus	EXT2	EXT2	1	1	Carmela Fusco
00208716	FamEXT2_01_e_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	7y	-	-	-	EXT2	multiple exostoses (HP:0002762); arm humerus; exostoses leg, right femur/thigh bones, left tibia/shin bone	EXT2	EXT2	1	1	Carmela Fusco
00208717	FamEXT2_01_f_pt1	PubMed: Fusco 2019	family, 2 affected	M	-	Italy	white	74y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses chest, scapula	EXT2	EXT2	1	2	Carmela Fusco
00208718	FamEXT2_01_f_pt2	PubMed: Fusco 2019	-	M	-	Italy	white	36y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses leg, bilateral femur/thigh bones, bilateral knees, bilateral tibia/shin bone; exostoses chest, scapula	EXT2	EXT2	1	1	Carmela Fusco
00208719	FamEXT2_02	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	3	Carmela Fusco
00208720	FamEXT2_03	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208721	FamEXT2_04_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	38y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, right femur/thigh bones, right fibula, bilateral tibia/shin bone; exostoses chest, scapula; deformed radius and ulna shortening; distal synostosis of the fibula and tibia	EXT2	EXT2	1	1	Carmela Fusco
00208722	FamEXT2_05	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208723	FamEXT2_06	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208724	FamEXT2_07	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208725	FamEXT2_08_pt1	PubMed: Fusco 2019	family, 3 affected	M	-	Italy	white	65y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses leg, bilateral knees	EXT2	EXT2	1	3	Carmela Fusco
00208726	FamEXT2_08_pt2	PubMed: Fusco 2019	-	F	-	Italy	white	27y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses hand (HP:0004276); exostoses foot, bilateral calcaneus; exostoses chest, right scapula	EXT2	EXT2	1	1	Carmela Fusco
00208727	FamEXT2_08_pt3	PubMed: Fusco 2019	-	M	-	Italy	white	25y	-	-	-	EXT2	multiple exostoses (HP:0002762); right arm humerus; exostoses leg, bilateral femur/thigh bones	EXT2	EXT2	1	1	Carmela Fusco
00208728	FamEXT2_09_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	43y	-	-	-	EXT2	multiple exostoses (HP:0002762); bilateral arm humerus; exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone	EXT2	EXT2	1	1	Carmela Fusco
00208729	FamEXT2_10_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	24y	-	-	-	EXT2	multiple exostoses (HP:0002762); bilateral arm humerus; exostoses left radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone	EXT2	EXT2	1	1	Carmela Fusco
00208730	FamEXT2_11	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208731	FamEXT2_12_pt1	PubMed: Fusco 2019	family, 2 affected	M	-	Italy	white	18y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses leg, right femur/thigh bones	EXT2	EXT2	1	2	Carmela Fusco
00208732	FamExt2-13PatII2	PubMed: Fusco 2019	2-generation family, 4 affected (3F, M)	F	-	Italy	white	17y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses ulna (HP:0003985)	EXT2	EXT2	1	4	Carmela Fusco
00208733	FamEXT2_14	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208734	FamEXT2_15_pt1	PubMed: Fusco 2019	family, 3 affected	F	-	Italy	white	38y	-	-	-	EXT2	multiple exostoses (HP:0002762); arm humerus; exostoses hand (HP:0004276), bilateral carpals, bilateral metacarpals, bilateral phalanges; exostoses leg, femur/thigh bones, bilateral knees; exostoses foot, bilateral talus, bilateral metatarsal, bilateral phalanges; exostoses chest, scapula	EXT2	EXT2	1	3	Carmela Fusco
00208735	FamEXT2_15_pt2	PubMed: Fusco 2019	-	F	-	Italy	white	38y	-	-	-	EXT2	multiple exostoses (HP:0002762); arm humerus; exostoses hand (HP:0004276), bilateral carpals, bilateral metacarpals, bilateral phalanges; exostoses leg, femur/thigh bones, knee	EXT2	EXT2	1	1	Carmela Fusco
00208736	FamEXT2_16_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	33y	-	-	-	EXT2	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	EXT2	EXT2	1	1	Carmela Fusco
00208737	FamEXT2_17	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208738	FamEXT2_18	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208739	FamEXT2_19	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208740	FamEXT2_20_pt1	PubMed: Fusco 2019	family, 1 affected	M	-	Italy	white	21y	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses right radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses hand (HP:0004276), left metacarpals, right phalanges; exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone; exostoses chest, bilateral ilium	EXT2	EXT2	1	1	Carmela Fusco
00208741	FamEXT2_21	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208742	FamEXT2_22	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208743	FamEXT2_23	PubMed: Fusco 2019	family, 1 affected	-	-	Italy	white	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Carmela Fusco
00208744	FamEXT2_24_pt1	PubMed: Fusco 2019	family, 2 affected	M	-	Italy	white	57y	-	-	-	EXT2	multiple exostoses (HP:0002762)	EXT2	EXT2	1	2	Carmela Fusco
00208745	FamEXT2_24_pt2	PubMed: Fusco 2019	-	M	-	Italy	white	18y	-	-	-	EXT2	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; genua valga	EXT2	EXT2	1	1	Carmela Fusco
00208746	FamEXT2_25_a_pt1	PubMed: Fusco 2019	family, 1 affected	F	-	Italy	white	30y	-	-	-	EXT2	multiple exostoses (HP:0002762); left arm humerus; exostoses hand (HP:0004276), carpals; exostoses leg, bilateral femur/thigh bones, bilateral knees, left fibula, bilateral tibia/shin bone; exostoses foot, bilateral talus; exostoses chest, scapula, right ribs	EXT2	EXT2	1	1	Carmela Fusco
00208747	-	PubMed: Fusco 2019	-	F	-	Italy	white	30y	-	-	-	EXT2	ulna (HP:00039, right), phalanges (right), femur (bilateral), fibula (bilateral), tibia (bilateral), clavicular (bilateral), scapula (bilateral)	EXT2	-	-	1	Carmela Fusco
00208748	-	PubMed: Fusco 2019	-	F	-	Italy	white	24y	-	-	-	EXT2	humerus (right), phalanges (bilateral), femur (bilateral), fibula (bilateral), tibia (bilateral), scapula (right)	EXT2	-	-	1	Carmela Fusco
00208749	-	PubMed: Fusco 2019	-	F	-	Italy	white	51y	-	-	-	EXT2	humerus (left), femur (bilateral), fibula (left), tibia (bilateral), ribs	EXT2	-	-	1	Carmela Fusco
00296842	-	-	-	-	-	-	-	-	-	-	-	EXT2	-	EXT2	EXT2	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00380771	?	PubMed: Nair 2018	-	?	-	Lebanon	-	-	-	-	-	EXT2	DD;ID; seizures; microcephaly; failure to thrive (Neurological)	-	EXT2	1	1	LOVD
00418841	FamEXT2_25_b_pt1	PubMed: Fusco 2019	family, 3 affected	F	-	Italy	-	-	-	-	-	EXT2	multiple exostoses (HP:0002762); exostoses right ulna (HP:0003985); exostoses hand (HP:0004276), right phalanges; exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, bilateral calvicular, bilateral scapula	EXT2	EXT2	1	3	Johan den Dunnen
00418842	FamEXT2_25_b_pt2	PubMed: Fusco 2019	-	F	-	Italy	-	-	-	-	-	EXT2	multiple exostoses (HP:0002762); right arm humerus; exostoses hand (HP:0004276), bilateral phalanges; exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, right scapula	EXT2	EXT2	1	1	Johan den Dunnen
00418843	FamEXT2_25_b_pt3	PubMed: Fusco 2019	-	F	-	Italy	-	-	-	-	-	EXT2	multiple exostoses (HP:0002762); left arm humerus; exostoses leg, bilateral femur/thigh bones, left fibula, bilateral tibia/shin bone; exostoses chest, ribs	EXT2	EXT2	1	1	Johan den Dunnen
00452927	NEFU_MMHG_MHE_2	-	Proband	M	no	Russia	Sakha (Yakut)	>06y	-	-	Surgery	EXT2	HP:0002762; HP: 0000896; HP: 0003872; HP:0005039	EXT2	EXT2	1	3	Leonid R. Zhozhikov
00452928	NEFU_MMHG_MHE_3	-	Sibs	M	no	Russia	Sakha (Yakut)	>12y	-	-	-	EXT2	HP:0002762; HP:0000918; HP: 0000896; HP:0004276; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452929	NEFU_MMHG_MHE_4	-	Mother	F	no	Russia	Sakha (Yakut)	>42y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452940	NEFU_MMHG_MHE_5	-	Proband	M	no	Russia	Sakha (Yakut)	>17y	-	-	Surgery	EXT2	HP:0002762; HP:0003872; P:0004276; HP:0003276; HP:0005039	EXT1, EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452946	NEFU_MMHG_MHE_8	-	Proband	M	no	Russia	Sakha (Yakut)	>20y	-	Surgery	Surgery	EXT2	HP:0002762; HP: 0000896; HP:0003872; P:0004276; HP:0005039	EXT1, EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452947	NEFU_MMHG_MHE_9	-	Proband	M	no	Russia	Sakha (Yakut)	>21y	-	-	Surgery	EXT2	HP:0002762; HP: 0000896; HP: 0003872; P:0004276; HP:0005039	EXT1, EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452948	NEFU_MMHG_MHE_10	-	Proband	M	no	Russia	Sakha (Yakut)	>15y	-	-	Surgery	EXT2	HP:0002762; HP:0003872; HP:0005039	EXT1, EXT2	EXT2	1	2	Leonid R. Zhozhikov
00452951	NEFU_MMHG_MHE_11	-	Father	M	no	Russia	Sakha (Yakut)	>52y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452953	NEFU_MMHG_MHE_13	-	Proband	M	no	Russia	Sakha (Yakut)	>18y	-	-	Surgery	EXT2	HP:0002762; HP:0003872; P:0004276; HP:0003276; HP:0005039	EXT2	EXT2	1	7	Leonid R. Zhozhikov
00452954	NEFU_MMHG_MHE_14	-	Father	M	no	Russia	Sakha (Yakut)	>55y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452955	NEFU_MMHG_MHE_15	-	Cousin	F	no	Russia	Sakha (Yakut)	>20y	-	-	-	EXT2	HP:0002762; HP:0003872; HP:0004276; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452956	NEFU_MMHG_MHE_16	-	Aunt	F	no	Russia	Sakha (Yakut)	>49y	-	-	-	EXT2	HP:0002762; HP:0003872	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452957	NEFU_MMHG_MHE_17	-	Aunt	F	no	Russia	Sakha (Yakut)	>53y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452959	NEFU_MMHG_MHE_18	-	Cousin	F	no	Russia	Sakha (Yakut)	>25y	-	-	-	EXT2	HP:0002762; HP:0003872; P:0004276; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452960	NEFU_MMHG_MHE_19	-	Cousin	M	no	Russia	Sakha (Yakut)	>24y	-	-	-	EXT2	HP:0002762; HP:0003872; P:0004276; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452962	NEFU_MMHG_MHE_20	-	Uncle	M	no	Russia	Sakha (Yakut)	>37y	-	-	-	EXT2	HP:0002762; HP:0003872; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452963	NEFU_MMHG_MHE_21	-	Proband	M	no	Russia	Sakha (Yakut)	>18y	-	-	Surgery	EXT2	HP:0002762; HP:0003872; HP:0005039	EXT2	EXT2	1	6	Leonid R. Zhozhikov
00452964	NEFU_MMHG_MHE_22	-	Father	M	no	Russia	Sakha (Yakut)	>42y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452965	NEFU_MMHG_MHE_23	-	Aunt	F	no	Russia	Sakha (Yakut)	>09y	-	-	Surgery	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452966	NEFU_MMHG_MHE_24	-	Uncle	M	no	Russia	Sakha (Yakut)	>31y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452967	NEFU_MMHG_MHE_25	-	Aunt	F	no	Russia	Sakha (Yakut)	>27y	-	-	-	EXT2	HP:0002762; HP:0003872; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452972	NEFU_MMHG_MHE_30	-	Proband	M	no	Russia	Sakha (Yakut)	>28y	-	-	Surgery	EXT2	HP:0002762; HP:0005039	EXT1, EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452973	NEFU_MMHG_MHE_31	-	Proband	M	no	Russia	Sakha (Yakut)	>17y	-	-	Surgery	EXT2	HP:0002762; HP: 0000896; HP: 0003872; HP:0005039	EXT1, EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452974	NEFU_MMHG_MHE_32	-	Proband	F	no	Russia	Sakha (Yakut)	>11y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT1, EXT2	EXT2	1	2	Leonid R. Zhozhikov
00452975	NEFU_MMHG_MHE_33	-	Mother	F	no	Russia	Sakha (Yakut)	>33y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452980	NEFU_MMHG_MHE_38	-	Proband	F	no	Russia	Sakha (Yakut)	>13y	-	-	-	EXT2	HP:0002762; HP:0000918; HP:0004276; HP:0005039	EXT1, EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452981	NEFU_MMHG_MHE_39	-	Proband	M	no	Russia	Sakha (Yakut)	>25y	-	-	-	EXT2	HP:0002762; HP:0003872; HP:0005039	EXT1, EXT2	EXT2	1	4	Leonid R. Zhozhikov
00452982	NEFU_MMHG_MHE_40	-	Cousin	M	no	Russia	Sakha (Yakut)	>25y	-	-	-	EXT2	HP:0002762; HP: 0000896; HP:0004276; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452983	NEFU_MMHG_MHE_41	-	Niece	F	no	Russia	Sakha (Yakut)	>14y	-	-	-	EXT2	HP:0002762; HP:0000918; HP: 0000896; HP:0003872; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452984	NEFU_MMHG_MHE_42	-	Niece	F	no	Russia	Sakha (Yakut)	>13y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452985	NEFU_MMHG_MHE_43	-	Proband	F	no	Russia	Sakha (Yakut)	>45y	-	-	Surgery	EXT2	HP:0002762; HP:0002650; HP: 0003872; HP:0004276; HP:0005039	EXT2	EXT2	1	2	Leonid R. Zhozhikov
00452986	NEFU_MMHG_MHE_44	-	Son	M	no	Russia	Sakha (Yakut)	>15y	-	-	-	EXT2	HP:0002762; HP:0003872; HP:0005039	EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452987	NEFU_MMHG_MHE_45	-	Proband	M	no	Russia	Sakha (Yakut)	>06y	-	-	-	EXT2	HP:0002762; HP:0005039	EXT1, EXT2	EXT2	1	1	Leonid R. Zhozhikov
00452988	NEFU_MMHG_MHE_46	-	Proband	F	no	Russia	Sakha (Yakut)	>08y	-	-	Surgery	EXT2	HP:0002762; HP:0000918; HP: 0000896; HP:0005039	EXT1, EXT2	EXT2	1	1	Leonid R. Zhozhikov
00453414	NEFU_MMHG_MHE_47	Journal: Yakovleva 2022	Proband	F	no	Russia	Sakha (Yakut)	>19y	-	-	-	EXT2	HP:0002762; HP:0003872; HP:0003276; HP:0005039	EXT1, EXT2	EXT2	1	1	Yakovleva Alexandra Eremeevna

Legend

How to query

Global Variome shared LOVD

JAZF1 (JAZF zinc finger 1)