All individuals with variants in gene DNMT3A

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.

46 entries on 1 page. Showing entries 1 - 46.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00101237	24614070-COG0274-P1	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (2.6 SD), OFC (2.2 SD); Moderate intellectual disability (HP:0002342), Seizures(HP:0001250), distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098)	1	1	Lynn Boekhoudt
00101240	24614070-COG1770-P2	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (2.9 SD), OFC (3.7 SD); moderate intellectual disability (HP:0002342), Ventriculomegaly (HP:0002119), umbilical hernia (HP:0001537), scoliosis (HP:0002650), distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098)	1	1	Lynn Boekhoudt
00101242	24614070-COG1670-P3	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (3.2 SD), OFC (2.8 SD); moderate intellectual disability (HP:0002342), distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows (HP:0000574,HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098)	1	1	Lynn Boekhoudt
00101243	24614070-COG0141-P4	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (2.3 SD), OFC (NA) SD; moderate intellectual disability (HP:0002342), distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098)	1	1	Lynn Boekhoudt
00101244	24614070-COG0422-P5	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (1.9 SD), OFC (1.2 SD); moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098), Atrio-septal defect (HP:0001631)	1	1	Lynn Boekhoudt
00101245	24614070-COG1288-P6	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (1.8 SD), OFC (3.8 SD); moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098), Atrio-septal defect (HP:0001631), sagittal craniosynostosis (HP:0004442)	1	1	Lynn Boekhoudt
00101246	24614070-COG0553-P7	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (3.4 SD), OFC (5.1 SD); mild intellectual disability (HP:0001256),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098), mild hemihypertrophy (HP:0001528), umbilical hernia (HP:0001537).	1	1	Lynn Boekhoudt
00101247	24614070-COG1688-P8	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (2.8 SD) , OFC (2.1 SD); moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098), scoliosis (HP:0002650).	1	1	Lynn Boekhoudt
00101248	24614070-COG1695-P9	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (4.0 SD), OFC (3.8 SD); moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098), Vesico-ureteric reflux (HP:0000076), patella subluxation (HP:0010499)	1	1	Lynn Boekhoudt
00101375	24614070-COG1512-P10	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height (3.8 SD), OFC (1.6 SD); moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098).	1	1	Lynn Boekhoudt
00101376	24614070-COG1771-P11	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height 4.2 SD above mean (mean 3.0), OFC 1.7 SD above mean (mean 2.5). Mild intellectual disability (HP:0001256),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098),Testicular atrophy (HP:0000029), seizures (HP:0001250), scoliosis (HP:0002650).	1	1	Lynn Boekhoudt
00101377	24614070-COG0109-P12	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected individual , unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height 2.7 SD above mean (mean 3.0), OFC 1.3 SD above mean (mean 2.5). Moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098), Mitral and tricuspid regurgitation (HP:0001653,HP:0005180), kyphoscoliosis (HP:0002751).	1	1	Lynn Boekhoudt
00101378	24614070-COG1677-P13	PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017	2 generation family, 1 affected, unaffected non-carrier parents.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; Height 3.7 SD above mean (mean 3.0), OFC 1.2 SD above mean (mean 2.5). Moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098).	1	1	Lynn Boekhoudt
00101382	27317772-T57-P2	PubMed: Tlemsani 2016, Journal: Tlemsani 2016	2 generation family, 1 affected (1F), unaffected non-carrier mother, paternal DNA not available.	F	-	France	-	-	-	-	-	?	-	1	1	Lynn Boekhoudt
00101383	27317772-T214-P3	PubMed: Tlemsani 2016, Journal: Tlemsani 2016	2 generation family, 1 affected (1M), unaffected non-carrier parents.	M	-	France	-	-	-	-	-	?	Sotos-like syndrome; Height (+6 SD), OFC (+4 SD), Weight (+8 SD); mild intellectual deficiency (HP:0001256), schizophrenia (HP:0100753), coarse facies (HP:0000280), thick horizontal eyebrows (HP:0011228, HP:0000574), large nasal bridge (HP:0000431), marked philtrum (HP:0002002), long hands and feet HP:0001833), hypothyroidy (HP:0000821), hypogonadotropic hypogonadism (HP:0000044), BMI 27.4 overweight (HP:0001513), supernumerary teeth (HP:0011069), sensory-motor axonal neuropathy (HP:0007002).	1	1	Lynn Boekhoudt
00101384	27317772-T144-P4	PubMed: Tlemsani 2016, Journal: Tlemsani 2016	2 generation family, 1 affected (1F), unaffected non-carrier parents.	F	-	France	-	-	-	-	-	?	Sotos-like syndrome; Height (+2 SD), OFC (+3 SD), Weight (+0.8 SD); mild intellectual deficiency (HP:0001256), behavioural disorder (HP:0000708), aggressiveness (HP:0000718); horizontal eyebrows (HP:0011228), marked philtrum (HP:0002002), downslanting palpebral fissures (HP:0000494), normal hands and feet; normal bone age, BMI 15.3 no overweight.	1	1	Lynn Boekhoudt
00101394	27317772-T94-P5	PubMed: Tlemsani 2016, Journal: Tlemsani 2016	2 generation family, 1 affected (1M), unaffected non-carrier parents.	M	-	France	-	-	-	-	-	?	Sotos-like syndrome; Height (+4 SD), OFC (+4 SD), Weight (+6 SD); mild intellectual deficiency (HP:0001256), horizontal eyebrows (HP:0011228), marked philtrum (HP:0002002), downslanting palpebral fissures (HP:0000494), large nasal bridge (HP:0000431), normal hands and feet, bone age not available, 4 Café-au-lait spots (HP:0000957), obesity BMI 29.4 (HP:0001513), abdominal striae distensae (HP:0001065).	1	1	Lynn Boekhoudt
00101395	27317772-T8-P6	PubMed: Tlemsani 2016, Journal: Tlemsani 2016	2 generation family, 1 affected (1F), unaffected non-carrier parents.	F	-	France	-	-	-	-	-	?	Sotos-like syndrome; Height (+6 SD), OFC (+3 SD), Weight (+5 SD); mild intellectual deficiency (HP:0001256), large nasal bridge (HP:0000431),thick nasal alae (HP:0009928), marked philtrum (HP:0002002), normal hands and feet, advanced bone age (HP:0005616), BMI 16.5 (no overweight), malposition of teeth (HP:0000692), nystagmus(HP:0000639).	1	1	Lynn Boekhoudt
00101396	27317772-T155-P7	PubMed: Tlemsani 2016, Journal: Tlemsani 2016	2 generation family, 1 affected, unaffected non-carrier parents	M	-	France	-	-	-	-	-	?	height (+2 SD), OFC (+3 SD), weight (+4.5 SD); mild intellectual deficiency (HP:0001256); horizontal eyebrows (HP:0011228), marked philtrum (HP:0002002), downslanting palpebral fissures (HP:0000494), thick nasal alae (HP:0009928), normal hands and feet; advanced bone age at younger age (HP:0005616), hyperlaxity (HP:0001388), kyphosis (HP:0002808), recurrent pneumothorax (HP:0006522), overweight BMI 28 (HP:0001513), abdominal striae distensae (HP:0001065)	1	1	Lynn Boekhoudt
00101397	27317772-T162-P8	PubMed: Tlemsani 2016, Journal: Tlemsani 2016	2 generation family, 1 affected (1M), unaffected non-carrier parents.	M	-	France	-	-	-	-	-	?	Sotos-like syndrome; Height (+4 SD), OFC (+2.5 SD), Weight (+3.8 SD); mild intellectual deficiency (HP:0001256), horizontal eyebrows (HP:0011228), marked philtrum (HP:0002002), downslanting palpebral fissures (HP:0000494), thick nasal alae (HP:0009928),Large nasal bridge (HP:0000431), normal hands and feet, advanced bone age (HP:0005616), BMI 16.5 (no overweight), nystagmus(HP:0000639), Atrial septal defect (HP:0001631).	1	1	Lynn Boekhoudt
00101398	27701732-FamAPatII3	PubMed: Xin 2016, Journal: Xin 2016	2 generation family, 4 affecteds (3F, 1M), unaffected non-carrier parents.	F	-	United States	Old Order Amish	-	-	-	-	?	Overgrowth syndrome with intellectual disability; birth length 54.3cm, weight 4939g; 25y length 173cm, weight 96kg, BMI 32; Long oval face (HP:0000276, HP:0000300), heavy horizontal eyebrow (HP:0000574, HP:0011228), Narrow palpebral fissures (HP:0000581), Overcrowding of teeth(HP:0000678), High arched palate (HP:0002705), Pes Planus (HP:0001763), Hypermobility of joints (HP:0001382), Hypotonia (HP:0001290), Depression (HP:0000716), Thyroid nodules (HP:0005994).	1	4	Lynn Boekhoudt
00102669	27701732-FamAPatII5	PubMed: Xin 2016, Journal: Xin 2016	FamAPatII5	F	-	United States	Old Order Amish	-	-	-	-	?	-	1	1	Lynn Boekhoudt
00102670	27701732-FamAPatII7	PubMed: Xin 2016, Journal: Xin 2016	FamAPatII7	F	-	United States	Old Order Amish	-	-	-	-	?	-	1	1	Lynn Boekhoudt
00102671	27701732-FamAPatII13	PubMed: Xin 2016, Journal: Xin 2016	FamAPatII13	M	-	United States	Old Order Amish	-	-	-	-	?	-	1	1	Lynn Boekhoudt
00102685	27701732-FamBPatII3	PubMed: Xin 2016, Journal: Xin 2016	2 generation family, 2 affecteds (1F, 1M), unaffected non-carrier parents, paternal DNA is not available.	F	-	Canada	French Canadian	-	-	-	-	?	-	1	2	Lynn Boekhoudt
00103205	27701732-FamBPatII7	PubMed: Xin 2016, Journal: Xin 2016	FamBPatII7	M	-	Canada	French Canadian	-	-	-	-	?	-	1	1	Lynn Boekhoudt
00103209	26866722-P1	PubMed: Okamoto 2016, Journal: Okamoto 2016	2 generation family, 1 affected (1M), unaffected non-carrier parents	M	no	Japan	-	-	-	-	-	TBRS	overgrowth syndrome with intellectual disability; birth 42w, weight 3980 g, length of 52.3 cm, OFC 36.2 cm; 5y height was 121.2 cm, weight 24.3kg, OFC 56.5cm; developmental delay since early infancy (HP:0001263), delayed motor development (HP:0001270), early eruption of permanent teeth (HP:0006337), heavy horizontal eyebrows (HP:0000574, HP:0011228), narrow down-slanting palpebral fissures Narrow palpebral fissures (HP:0000494, HP:0000581), epicanthal folds (HP:0000286), low set ears (HP:0000369), high palate (HP:0000218)	1	1	Lynn Boekhoudt
00103217	27991732-P1	PubMed: Kosaki 2016, Journal: Kosaki 2016	2 generation family, 1 affected (1F), unaffected non-carrier parents, paternal samples were unavailable	F	no	Japan	-	-	-	-	-	?	Overgrowth syndrome with intellectual disability; birth 40w, weight 3926g, length 54cm, OFC 34.2 cm; 00y01m hypotonia (HP:0001290), ventricular septal defect (HP:0001629); 03y02m weight 16.8kg, length 98.6cm, round face (HP:0000311), hypertelorism (HP:0000316), narrow palpebral fissures (HP:0000581), horizontal eyebrows (HP:0011228), short upturned nose (HP:0000463), deep philtral groove (HP:0011825), and a protruding upper lip (HP:0010803), hypotonia (HP:0001290), talipes valgus (HP:0004684), lipoma of the filum terminale, sacral cyst, umbilical hernia (HP:0001537), urachal remnant (HP:0001537), Chiari type I anomaly (HP:0007099), ...see article	1	1	Lynn Boekhoudt
00226339	patient8	-	-	F	?	-	-	-	-	-	-	cancer	dysembryoplastic neuroepithelial tumour	1	1	Lisa-Marie Niestroj
00231357	Patient 1	-	-	M	no	Spain	white	-	-	-	-	TBRS	-	1	1	Jair Antonio Tenorio
00231367	Patient 2	-	-	M	no	Spain	white	-	-	-	-	TBRS	-	1	1	Jair Antonio Tenorio
00231370	Patient 3	-	-	F	no	Spain	white	-	-	-	-	TBRS	-	1	1	Jair Antonio Tenorio
00231373	Patient 4	-	-	F	no	Spain	white	-	-	-	-	TBRS	-	1	1	Jair Antonio Tenorio
00231374	Patient 5	-	-	F	no	Spain	white	-	-	-	-	TBRS	-	1	1	Jair Antonio Tenorio
00231375	Patient 6	-	-	M	no	Spain	-	-	-	-	-	TBRS	-	1	1	Jair Antonio Tenorio
00245882	Patient 7	-	-	F	no	Spain	white	-	-	-	-	TBRS	-	1	1	Jair Antonio Tenorio
00301264	-	PubMed: Minardi 2020	-	F	-	Italy	-	-	-	-	-	EIEE	-	1	1	Francesca Bisulli
00435098	-	-	-	M	no	Spain	white	-	-	-	-	TBRS	-	1	1	Javier Porta
00435101	-	-	-	-	-	-	-	-	-	-	-	TBRS	-	1	1	Javier Porta
00435102	-	-	-	M	-	-	-	-	-	-	-	TBRS	-	1	1	Javier Porta
00438662	HSJ0515	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00450230	COG0108	PubMed: Tatton-Brown 2017	patient	-	-	United States	-	-	-	-	-	?	overgrowth; moderate intellectual disability;	1	1	Johan den Dunnen
00450231	COG0316	PubMed: Tatton-Brown 2017	patient	-	-	United States	-	-	-	-	-	?	overgrowth height; severe intellectual disability;	1	1	Johan den Dunnen
00450232	COG0510	PubMed: Tatton-Brown 2017	patient	-	-	United States	-	-	-	-	-	?	overgrowth height; mild intellectual disability;	1	1	Johan den Dunnen
00450233	COG1632	PubMed: Tatton-Brown 2017	patient	-	-	United States	-	-	-	-	-	?	overgrowth head, overgrowth height; moderate intellectual disability;	1	1	Johan den Dunnen
00450234	COG1760	PubMed: Tatton-Brown 2017	patient	-	-	United States	-	-	-	-	-	?	overgrowth head, overgrowth height; mild intellectual disability;	1	1	Johan den Dunnen

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Global Variome shared LOVD

DNMT3A (DNA (cytosine-5-)-methyltransferase 3 alpha)