Disease #01006 (KDVS (Koolen-De Vries syndrome (KDVS, 17q21.31 deletion syndrome)), OMIM:610443)

Official abbreviation	KDVS
Name	Koolen-De Vries syndrome (KDVS, 17q21.31 deletion syndrome)
OMIM ID	610443
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	45
Phenotype entries for this disease	44
Associated with 1 gene	KANSL1
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'

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.

45 entries on 1 page. Showing entries 1 - 45.

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
00043768	26306646-Pat#1	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043769	26306646-Pat#2	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043770	26306646-Pat#3	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043771	26306646-Pat#6	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	DFNA13, KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043772	26306646-Pat#7	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043773	26306646-Pat#9	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043774	26306646-Pat#10	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043791	26306646-Pat#11	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043792	26306646-Pat#12	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043793	26306646-Pat#14	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043794	26306646-Pat#16	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043795	26306646-Pat#17	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043796	26306646-Pat#18	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043797	26306646-Pat#22	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043798	26306646-Pat#23	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043799	26306646-Pat#24	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043800	26306646-Pat#26	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043801	26306646-Pat#28	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043802	26306646-Pat#29	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043803	26306646-Pat#30	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043804	26306646-Pat#31	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043805	26306646-Pat#32	PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00043806	26306646-Pat#33	PubMed: Koolen 2016	-	F	-	-	-	-	-	-	-	KDVS	17q21.31 deletion syndrome, see paper; …	-	-	1	1	David Koolen
00117294	-	PubMed: Zollino 2012	-	F	-	Italy	-	-	-	-	-	KDVS	Intrauterine growth retardation; hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; everted lower lip; large and/or prominent ears; broad chin; motor delay; mild intellectual disability; happy, friendly disposition; joint hyperextensibility; recurrent otitis	KANSL1	KANSL1	1	1	Giuseppe Marangi
00117295	-	PubMed: Zollino 2012	-	F	-	Italy	-	-	-	-	-	KDVS	Hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; long face; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; large and/or prominent ears; broad chin; motor delay; moderate intellectual disability; happy, friendly disposition; dislocation of the hip; scoliosis; joint hyperextensibility; laryngospasm	KANSL1	KANSL1	1	1	Giuseppe Marangi
00117296	Pat3, Pat#34	PubMed: Koolen 2012, PubMed: Koolen 2016	-	M	-	-	white	-	-	-	-	KDVS	microdeletion syndrome, chromosome 17q21.31; intrauterine growth retardation; birth weight 2,500 g (5th centile); feeding difficulties, stridor, and failure to thrive in infancy; hypotonia; global developmental delay; independent walking and first words at two years of age; impaired fine motor skills; no seizures or stereotypical movements; short stature; fair hair; upslanting palpebral fissures; epicanthic folds; telecanthus; broad nasal base; smooth philtrum; thin vermillion border; small teeth; short webbed neck; blind ending sacral dimple; pes planus; prominence of the lateral ventricles secondary to lack of white matter volume, and some heterotopic nodules in the right frontal horn at brain MRI.	KANSL1	KANSL1	2	1	Giuseppe Marangi
00117297	Pat4, Pat#43	PubMed: Koolen 2012, PubMed: Koolen 2016	-	M	-	-	-	-	-	-	-	KDVS	bilateral cleft lip and palate; micrognathia; ventricular septal defect (VSD) spontaneously resolved; cryptorchidism; sacral dimple; neonatal hypotonia, inspiratory stridor and feeding difficulties; developmental delay, with independent walking at 26 months, and first words at 18 months; expressive language disorder; moderate cognitive impairment (IQ 35); friendly personality; normal brain MRI; frequent acute otitis media; mild hypermetropia; strabismus divergens; long face; micrognathia; hypertelorism; strabismus; everted ears; short upslanting palpebral fissures; high nasal bridge; broad pear-shaped nose; long philtrum; open mouth appearance; unilateral simian crease; scoliosis; pes planus; mild hypotonia; gait instability	KANSL1	KANSL1	1	1	Giuseppe Marangi
00117298	-	PubMed: Koolen 2012	-	M	-	-	-	-	-	-	-	KDVS	microdeletion syndrome, chromosome 17q21.31	KANSL1	KANSL1	1	1	Johan den Dunnen
00117299	-	PubMed: Koolen 2012	-	F	-	-	-	-	-	-	-	KDVS	microdeletion syndrome, chromosome 17q21.31	KANSL1	KANSL1	1	1	Johan den Dunnen
00117329	Pat#35	PubMed: Koolen 2016	-	M	no	-	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Koolen
00117330	Pat#36	PubMed: Koolen 2016	-	M	no	-	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Koolen
00117331	Pat#37	PubMed: Koolen 2016	-	F	no	-	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Koolen
00117332	Pat#38	PubMed: Koolen 2016	-	F	no	Australia	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Amor
00117333	Pat#39	PubMed: Koolen 2016	-	F	no	-	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Koolen
00117334	Pat#40	PubMed: Koolen 2016	-	F	no	Australia	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Koolen
00117335	Pat#41	PubMed: Koolen 2016	-	F	no	-	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Koolen
00117336	Pat#42	PubMed: Koolen 2016	-	M	no	Australia	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Amor
00117337	Pat#44	PubMed: Koolen 2016	-	M	no	-	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Koolen
00117338	Pat#45	PubMed: Koolen 2016	-	F	no	-	-	-	-	-	-	KDVS	Koolen-de Vries syndrome see paper …	KANSL1	KANSL1	1	1	David Koolen
00307376	kdvs_119	-	-	M	-	Netherlands	-	-	-	-	-	KDVS	-	-	KANSL1	1	1	Alexander Dingemans
00307400	patient	PubMed: Keen 2017, Journal: Keen 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	Irish;English/Irish;German	-	-	-	-	KDVS	see paper; ...	-	KANSL1	1	1	Alexander Dingemans
00307401	Pat1	PubMed: Dingemans 2021, Journal: Dingemans 2021	-	F	-	-	-	-	-	-	-	KDVS	Caesarian section; hypotonia; poor sucking; epilepsy; TIA; developmental delay; facial hypotonia; broad nasal tip; prominent nasal bridge; microdontia; clinodactyly of the fifth finger on both hands; hypotonia of the lower limbs; hypermobility and endorotation of her feet.	-	KANSL1	1	1	Alexander Dingemans
00307402	Pat2	PubMed: Dingemans 2021, Journal: Dingemans 2021	-	M	yes	-	-	-	-	-	-	KDVS	caesarian section; hypotonia; hypoxia; bradycardia; epilepsy; developmental delay; patent ductus arteriousus; scapula alata; pes planus; protruding ears; thin upper lip; upslanted palpebral fissures ; low hanging columella nasi; hypoplastic alae nasi and a wide mouth; cerebellar hypoplasia; friendly nature; cryptorchidism	A2ML1	KANSL1	1	1	Alexander Dingemans
00307403	Pat3	PubMed: Dingemans 2021, Journal: Dingemans 2021	-	M	-	-	-	-	-	-	-	KDVS	plagiocephaly; developmental delay; hypotonia; torticollis; constipation; epilepsy; happy disposition	A2ML1	KANSL1	1	1	Alexander Dingemans
00380792	?	PubMed: Nair 2018	-	?	-	Lebanon	-	-	-	-	-	KDVS	DD; ID; muscular hypotonia; ptosis; short stature; hyperlaxity (Multiple systems)	-	KANSL1	1	1	LOVD

Legend

How to query

Global Variome shared LOVD