All individuals with variants in gene ASH1L

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.

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

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00183065	23033978-Trio66	PubMed: de Ligt 2012	-	M	-	Netherlands	-	-	-	-	-	ID	see paper; …	1	1	Johan den Dunnen
00307671	M20837	PubMed: Wang 2016	-	M	-	China	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307672	Pat1	PubMed: Stessman 2017	-	F	-	Sweden	-	-	-	-	-	ID	see paper; ...	1	1	Johan den Dunnen
00307680	Pat3	PubMed: Stessman 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Sweden	-	-	-	-	-	ID	see paper; ...	1	1	Johan den Dunnen
00307681	Pat4	PubMed: Stessman 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Sweden	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307682	Pat5	PubMed: Stessman 2017, PubMed: Krumm 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Sweden	-	-	-	-	-	ID	see paper; ...	1	1	Johan den Dunnen
00307683	patient	PubMed: Okamoto 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	ID	see paper; ..., severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, skeletal abnormalities	1	1	Johan den Dunnen
00307701	UK10K_FINDWGA5411302	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00311426	Pat5	PubMed: Faundes 2018	-	F	-	-	-	-	-	-	-	NDD	feeding difficulties; mild developmental delay/intellectual disability; behavioral problems; bicuspid aortic valve, ventricular septal defect, patent foramen ovale; normal stature (SD 0.2), normal weight (SD 0.82), OFC normal (SD 1.16); craniofacial dysmorphisms; hypermetropia, precocious puberty, hypermobility	1	1	Johan den Dunnen
00311427	Pat6	PubMed: Faundes 2018	-	M	-	-	-	-	-	-	-	NDD	feeding difficulties, hydronephrosis; severe developmental delay/intellectual disability; seizures, autistic traits, hypotonia; cryptorchidism, inguinal hernia; normal stature (SD 1.6), overweight (SD 2.33), OFC normal (SD 1.36); craniofacial dysmorphisms; hypermetropia, hyperacusis, hypermobility	1	1	Johan den Dunnen
00311428	Pat7/DECIPHER277820	PubMed: Faundes 2018	-	M	-	-	-	-	-	-	-	NDD	no perinatal history; severe developmental delay/intellectual disability; behavioral problems; cryptorchidism, blocked nasolacrimal duct; normal stature (SD -0.59), normal weight (SD -0.44), microcephaly (SD 1.72); craniofacial dysmorphisms; constipation	1	1	Johan den Dunnen
00311903	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311904	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311905	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311906	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311907	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311908	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312089	DECIPHER255240	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	low-set ears, posteriorly rotated ears, broad nasal tip, dental malocclusion, malar flattening, narrow palate, delayed speech and language development, intellectual disability, nasal speech	1	1	Johan den Dunnen
00312090	DECIPHER298835	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	abnormal facial shape, global developmental delay, myoclonic atonic seizures, prominent forehead	1	1	Johan den Dunnen
00312091	DECIPHER249031	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	low-set ears, hypertelorism, long face, delayed speech and language development, intellectual disability	1	1	Johan den Dunnen
00312092	DECIPHER276515	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	prominent nose, thin vermilion border, underdeveloped supraorbital ridges, synophrys, delayed speech and language development, intellectual disability, abnormality lumbar spine	1	1	Johan den Dunnen
00319931	FamPatIII1	PubMed: Xi 2020	4-generation family, 3 affected (father/daugther/fetus); mother	F	no	China	-	-	-	-	-	ID	see paper; ..., intellectual disability, behavioral problems, flat face, flat nasal bridge, short upturned nose, thin lips, small ears	1	1	Johan den Dunnen
00319932	patient	PubMed: Shen 2019	-	M	-	United States	white	-	-	-	-	ID	see paper; ..., multiple congenital anomalies, fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, scoliosis	1	1	Johan den Dunnen
00319934	PCGC 1-02749	PubMed: Homsy 2015	-	-	-	-	-	-	-	-	-	?	conotruncal defects,coronary branching, anomalous, right; single left coronary; truncus arteriosus type I; developmental dealy; learning disability, intellectual disability, autism	1	1	Johan den Dunnen
00403991	family	PubMed: Liu 2021	2-generation family, affected twin sisters, unaffected non-carrier parents	F	-	China	-	-	-	-	-	ID	see paper; ..., sleep disturbances; 4y-crying through the night; seizures, intellectual disability	1	2	Johan den Dunnen
00403993	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00403994	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00403995	-	PubMed: Wang 2016	-	-	-	China	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00403996	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00403997	-	PubMed: Fromer 2014	-	-	-	-	-	-	-	-	-	SCZD	-	1	1	Johan den Dunnen
00403998	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00403999	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404000	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404001	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404002	-	PubMed: Yuen 2017	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404003	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404004	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404005	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404006	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404007	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404008	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404009	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404010	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404011	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404012	-	PubMed: Carraro 2019	-	-	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00404013	-	PubMed: Aspromonte 2019	-	-	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00404014	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404015	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404016	-	PubMed: Wang 2016	-	-	-	China	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404017	-	PubMed: Kosmicki 2017	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404018	-	PubMed: De Rubeis 2014	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404019	-	PubMed: Kosmicki 2017	-	-	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00404020	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404021	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404022	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404023	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404024	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404025	-	PubMed: Jansen 2018	-	-	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00404026	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404027	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404028	-	PubMed: Wang 2016	-	-	-	China	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404029	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404030	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404031	-	PubMed: Jansen 2018	-	-	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00404032	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404033	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404034	-	PubMed: Kosmicki 2017	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404035	-	PubMed: Iossifov 2014	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404036	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404037	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404038	-	PubMed: Stessman 2017	-	-	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00404039	-	PubMed: Yuen 2017	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404040	-	PubMed: Tammimies 2015	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404041	-	PubMed: DDDS 2017	-	-	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00404042	-	PubMed: Kosmicki 2017	-	-	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00404043	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404044	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404045	-	PubMed: Guo 2018	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00404046	-	PubMed: Yuen 2017	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00449878	-	-	-	M	-	-	-	-	-	-	-	SCZD	Schizophrenia, Autism, Abnormality of the face	1	1	Camille Verebi

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Global Variome shared LOVD

ASH1L (ash1 (absent, small, or homeotic)-like (Dro...))