All individuals with variants in gene MLL3

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.

144 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00311423	Pat2;Pat7	PubMed: Faundes 2018, PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	no perinatal history; severe developmental delay/intellectual disability; elective mutism; duplicated right thumb, left preauricular tag; short stature (SD -2.1), low weight (SD -2.74), microcephaly (SD -2.42); craniofacial dysmorphisms; hearing loss, delayed puberty	1	1	Johan den Dunnen
00311424	Pat3;Pat8	PubMed: Faundes 2018, PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	hydrocephalus, Dandy-Walker anomaly; severe developmental delay/intellectual disability; hydrocephalus, hypoplasia of cerebellar vermis; no malformation/anomalies; short stature (SD -2), low weight (SD -2), microcephaly (SD -1.97); craniofacial dysmorphisms	1	1	Johan den Dunnen
00311425	Pat4;Pat9	PubMed: Faundes 2018, PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	no perinatal history; severe developmental delay/intellectual disability, mild motor delay; autistic traits, developmental regression, insensitivity to pain, abnormal gait; no malformation/anomalies; normal stature (SD 0.4), normal weight (SD 0.18), OFC normal (SD -1); craniofacial dysmorphisms; constipation	1	1	Johan den Dunnen
00311968	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311969	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311970	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311971	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311972	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311973	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311974	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311975	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311976	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311977	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311978	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311979	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311980	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311981	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312048	DECIPHER263913	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312049	DECIPHER296318	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312050	DECIPHER250027	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	intellectual disability	1	1	Johan den Dunnen
00312051	DECIPHER328097	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	hypermetropia, congenital microcephaly, moderate global developmental delay	1	1	Johan den Dunnen
00312052	DECIPHER267620	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312053	DECIPHER323045	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	hypospadias, autistic behaviour, moderate intellectual disability	1	1	Johan den Dunnen
00312054	DECIPHER2517	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	choanal atresia, coloboma, iris coloboma, microphthalmia, intra-uterine growth retardation	1	1	Johan den Dunnen
00312055	DECIPHER321961	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312056	DECIPHER1671	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	arrhythmia, peripheral arterial stenosis, abnormality helix, posteriorly rotated ears, hypertelorism, renal dysplasia, vesicoureteral reflux, depressed nasal bridge, epicanthus, malar flattening, coarse hair, generalized hirsutism, intellectual disability, sleep disturbance	1	1	Johan den Dunnen
00312057	DECIPHER323717	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	intellectual disability	1	1	Johan den Dunnen
00312058	DECIPHER289059	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	autism, global developmental delay	1	1	Johan den Dunnen
00312059	DECIPHER280475	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	global developmental delay	1	1	Johan den Dunnen
00312060	DECIPHER322282	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	patent ductus arteriosus, ventricular septal defect, disproportionate short-limb short stature, oral cleft	1	1	Johan den Dunnen
00312061	DECIPHER277910	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312062	DECIPHER260056	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	ventricular septal defect, microcephaly, intellectual disability, short attention span	1	1	Johan den Dunnen
00312063	DECIPHER297575	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	inguinal hernia, displacement external urethral meatus, hypospadias, short stature, microcephaly, multiple exostoses, global developmental delay, abnormality lumbar spine	1	1	Johan den Dunnen
00312064	DECIPHER303841	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312065	DECIPHER255286	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	proportionate short stature, microcephaly, prominent fingertip pads, clinodactyly 5th finger, overlapping toe, muscular hypotonia, intellectual disability	1	1	Johan den Dunnen
00312066	DECIPHER333386	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312067	DECIPHER286232	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	growth delay, oligohydramnios	1	1	Johan den Dunnen
00312068	DECIPHER2345	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	abnormality pinna, abnormality ureter, feeding difficulties in infancy, flexion contracture, inguinal hernia, sensorineural hearing impairment, urethral valve	1	1	Johan den Dunnen
00312069	DECIPHER250256	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	hypotelorism, strabismus, proportionate short stature, microcephaly, short palm, intellectual disability, scoliosis	1	1	Johan den Dunnen
00312070	DECIPHER322646	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312071	DECIPHER289790	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	hypertelorism, unilateral ptosis, short stature, brachycephaly, microcephaly	1	1	Johan den Dunnen
00312072	DECIPHER252404	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	hypospadias, abnormality face, cerebellar hemisphere hypoplasia, intellectual disability	1	1	Johan den Dunnen
00312073	DECIPHER250157	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312074	DECIPHER265558	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	wide intermamillary distance, gastroesophageal reflux, nasogastric tube feeding in infancy, moderate sensorineural hearing impairment, duplicated collecting system, postnatal growth retardation, congenital microcephaly, micrognathia, bimanual synkinesia, severe global developmental delay	1	1	Johan den Dunnen
00312075	DECIPHER251692	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312076	DECIPHER251739	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	primary amenorrhea, abnormality face, delayed speech and language development, intellectual disability, seizures	1	1	Johan den Dunnen
00312077	DECIPHER251763	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	abnormality face, autism, delayed speech and language development, intellectual disability, seizures	1	1	Johan den Dunnen
00312078	DECIPHER2223	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	microphthalmia, renal dysplasia, facial asymmetry, low posterior hairline, spotty hyperpigmentation	1	1	Johan den Dunnen
00312079	DECIPHER332394	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312080	DECIPHER308731	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	anal atresia, microcephaly, global developmental delay, aplasia/hypoplasia sacrum	1	1	Johan den Dunnen
00312081	DECIPHER271204	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	nasogastric tube feeding in infancy, deeply set eye, hypermetropia, strabismus, narrow mouth, central hypotonia, seizures, abnormality sacrum, long thorax	1	1	Johan den Dunnen
00312082	DECIPHER259664	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	hypospadias, microcephaly, pulmonic stenosis, ventricular septal defect, visual impairment	1	1	Johan den Dunnen
00312083	DECIPHER256153	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312084	DECIPHER798	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	strabismus, short stature, delayed speech and language development, intellectual disability, scoliosis, vertebral segmentation defect	1	1	Johan den Dunnen
00312085	DECIPHER254958	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312086	DECIPHER258344	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312087	DECIPHER307976	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312088	DECIPHER920	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	hypertelorism, optic atrophy, high palate, microcephaly, holoprosencephaly, hypoplasia corpus callosum, intellectual disability	1	1	Johan den Dunnen
00391855	215P	-	-	F	no	Spain	-	-	-	-	-	KLEFS2	-	1	1	Alejandro Brea-Fernández
00398614	190753	-	prenatal trio-exom	M	no	(Spain)	-	-	-	-	-	KLEFS2	Increased nuchal translucency (5,3 mm)	1	1	Andreas Laner
00438316	Pat34	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0200134 epileptic encephalopathy; HP:0007039 symmetric lesions of the basal ganglia	1	1	Johan den Dunnen
00438317	Pat35	PubMed: Chuan 2022	-	F	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0002342 intellectual disability, moderate	1	1	Johan den Dunnen
00438389	Pat108	PubMed: Chuan 2022	-	F	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0200134 epileptic encephalopathy	1	1	Johan den Dunnen
00453015	KS113;?;Pat1	PubMed: Kleefstra 2012, PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024	2-generation family, 1 affected, unaffected non carrier mother	F	-	-	-	-	-	-	-	KLEFS	intellectual disability; childhood hypotonia; microcephaly; short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; no arched eyebrows; no short nose; no anteverted nostrils; no macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; pointed chin; dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); no seizures	1	1	Johan den Dunnen
00453019	Pat1:Pat2	PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	-	-	-	-	-	-	KLEFS	moderate intellectual disability; language and motor delay; behavior problems, autistic traits; no childhood hypotonia; epilepsy; thoracal kyphosis; phenylketonuria; recurrent respiratory infections	1	1	Johan den Dunnen
00453020	Pat2:pat3	PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	-	-	-	-	-	-	KLEFS	imild ntellectual disability; language and motor delay; behavior problems, autism; no childhood hypotonia; no epilepsy; scoliosis; strabismus; cryptorchidism; brain MRI normal	1	1	Johan den Dunnen
00453021	Pat3;Pat4	PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	-	-	-	-	-	-	KLEFS	moderate intellectual disability, IQ50; language and motor delay; behavior problems, PDD-NOS, ADHD; childhood hypotonia; no epilepsy; no scoliosis/kyphosis; bifid uvula; hypospadia; bilateral inguinal hernia; brain MRI normal	1	1	Johan den Dunnen
00453022	Pat4;Pat5	PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024	2-generation family, 1 affected, unaffected non carrier parents	F	-	-	-	-	-	-	-	KLEFS	imild ntellectual disability, IS63; language and motor delay; behavior problems,autism, sleeping disorder; no childhood hypotonia; no epilepsy; no scoliosis/kyphosis; recurrent respiratory infections; dry skin; hoarse voice; brain MRI non-progressive enlarged extracerebral space	1	1	Johan den Dunnen
00453023	Pat5;Pat6	PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024	2-generation family, 1 affected, unaffected non carrier parents	F	-	-	-	-	-	-	-	KLEFS	severe intellectual disability; language and motor delay; behavior problems, automutilation; childhood hypotonia; epilepsy; kyphosis; plagiocephaly	1	1	Johan den Dunnen
00453054	Pat10	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453055	Pat11	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453056	Pat12	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453057	Pat13	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453058	Pat14	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453059	Pat15	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453060	Pat16	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453061	Pat17	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453062	Pat18	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453063	Pat19	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453064	Pat20	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453065	Pat21	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453066	Pat22	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453067	Pat23	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453068	Pat24	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453069	Pat25	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453070	Pat26	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453071	Pat27	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453072	Pat28	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453073	Pat29	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453074	Pat30	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453075	Pat31	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453076	Pat32	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453077	Pat33	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453078	Pat34	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453079	Pat35	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453080	Pat36	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453081	Pat37	PubMed: Rots 2024, Journal: Rots 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453082	Pat38	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453083	Pat39	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00453084	Pat40	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen

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Global Variome shared LOVD

MLL3 (myeloid/lymphoid or mixed-lineage leukemia 3)