Disease #02224 (CPX (cleft palate, with/without ankyloglossia, X-linked (CPX)), OMIM:303400)

Official abbreviation	CPX
Name	cleft palate, with/without ankyloglossia, X-linked (CPX)
OMIM ID	303400
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked
Individuals reported having this disease	39
Phenotype entries for this disease	38
Associated with 1 gene	TBX22
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

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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
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Andorra
(Andorra)
Angola
(Angola)
Anguilla
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bhutan
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Bolivia
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Bosnia and Herzegovina
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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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
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Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
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Czech Republic
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Denmark
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
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England
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Equatorial Guinea
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Eritrea
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Estonia
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Ethiopia
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
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Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
(Iraq)
Ireland
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Israel
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Italy
(Italy)
Jamaica
(Jamaica)
Japan
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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
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Lebanon
(Lebanon)
Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Martinique
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Morocco
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Myanmar
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Namibia
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Nepal
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
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New Zealand
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Nigeria
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Niue
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
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Palau
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Palestine
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Panama
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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
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Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
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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

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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'
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!=""	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
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>=	Numeric	>=23	all entries higher than, or equal to, 23
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Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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39 entries on 1 page. Showing entries 1 - 39.

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
00117613	-	PubMed: Pauws 2009	-	-	-	-	-	-	-	-	-	CPX	cleft palate	TBX22	TBX22	5	49	Johan den Dunnen
00117615	-	PubMed: Pauws 2009	-	-	-	-	-	-	-	-	-	CPX	cleft palate	TBX22	TBX22	2	7	Johan den Dunnen
00117617	-	PubMed: Pauws 2009	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia, associated with	TBX22	TBX22	3	15	Johan den Dunnen
00117619	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117621	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117622	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117623	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117624	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117625	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117626	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117627	-	-	-	-	-	Canada	Province of Manitoba	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117628	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117629	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117630	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117631	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117632	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117633	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft lip and palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117634	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117635	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117636	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117638	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117639	-	-	4-generation family	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117640	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117641	-	-	-	-	-	Brazil	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117642	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117643	-	-	3-generation family	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117644	-	-	-	-	-	Brazil	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117645	-	-	-	-	-	Canada	British Columbian	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117646	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117647	-	-	large family, 15 carrier females (4 non-expressing),21 affected males	-	-	Iceland	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	36	Jirko Kühnisch
00117648	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117650	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117651	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117652	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117653	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, ankyloglossia	TBX22	TBX22	1	1	Jirko Kühnisch
00117654	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00117655	-	-	carrier father bifid vulva, paternal uncle cleft palate	F	-	Thailand	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	3	Jirko Kühnisch
00117656	-	-	-	-	-	-	-	-	-	-	-	CPX	cleft palate, non syndromic	TBX22	TBX22	1	1	Jirko Kühnisch
00386953	SK9.0	-	-	M	no	Latvia	-	-	-	-	-	CPX	-	-	TBX22	1	1	Baiba Lace

Legend

How to query

Global Variome shared LOVD