Global Variome shared LOVD
ATRX (ATRX chromatin remodeler)
LOVD v.3.0 Build 29 [
Current LOVD status
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Global Variome, with Curator vacancy
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View all transcripts of gene ATRX
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View all variants affecting transcripts
View unique variants in gene ATRX
View all variants in gene ATRX
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View all individuals with variants in gene ATRX
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View all diseases associated with gene ATRX
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View available phenotype columns
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View all screenings for gene ATRX
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All individuals with variants in gene ATRX
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.
52 entries on 1 page. Showing entries 1 - 52.
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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
00000208
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
CHTE
central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)
2
1
Yu Sun
00000209
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
CHTE
central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)
1
1
Yu Sun
00016841
Fam2
PubMed: Tzschach 2015
2-generation family, 2 affected, unaffected heterozygous carrier mother
M
-
-
-
-
-
-
-
ID
severely delayed psychomotor development, 25m-walking, no speech, microcephaly borderline short stature; 30y maternal uncle said microcephalic in childhood, OFC and height now 50th centile
1
2
Andreas Tzschach
00016842
Fam3
PubMed: Tzschach 2015
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother
M
no
-
-
-
-
-
-
ID
7y/3y; severe intellectual disability, microcephaly, short nasal septum
1
2
Andreas Tzschach
00016925
Fam4
PubMed: Tzschach 2015
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother
M
-
-
-
-
-
-
-
ID
severe intellectual disability, secondary microcephaly, muscular hypotonia, epilepsy, strabismus, short nasal septum, agenesis gallbladder, 3y5m-deceased of respiratory infection; younger brother primary microcephaly, micropenis, cryptorchidism, severely delayed psychomotor development, gallbladder agenesis
1
2
Andreas Tzschach
00050590
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected sibling(s)
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
?
autism, specific learning disability, delayed speech and language development, seizures, macrocephaly, genital hypoplasia, joint hypermobility
1
2
Johan den Dunnen
00050655
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected and affected2nd degree relatives
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
?
global developmental delay, generalized hypotonia, microcephaly, wide mouth, cryptorchidism
1
1
Johan den Dunnen
00050710
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
?
intrauterine growth retardation, feeding difficulties in infancy, generalized hypotonia, hypoglycemia, agenesis of corpus callosum, global developmental delay, cortical visual impairment, epicanthus, low-set posteriorly rotated ears, downturned corners of mouth, uplifted earlobe, preauricular pit, progressive microcephaly
1
1
Johan den Dunnen
00095109
-
-
-
-
?
-
-
-
-
Yes
-
MRXHF1
-
1
1
Karen Stals
00111409
S_090
PubMed: Popp 2017
,
Journal: Popp 2017
-
M
no
-
-
-
-
-
-
ID
Male, 16 mo, hypotonia, severe developmental delay, renal anomalies, normal head circumference (maternal XI 86%); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344)
1
1
Bernt Popp
00133269
Case 1
-
-
M
?
France
-
>22y
-
-
-
ATRX
Osteosarcoma at 9 years
1
1
Julien Masliah-Planchon
00133270
Case 2
-
-
M
?
-
-
06y
-
-
-
ATRX
Osteosarcoma
1
1
Julien Masliah-Planchon
00150144
26539891-FamBAB6085
PubMed: Karaca 2015
-
-
-
-
-
-
-
family structure in paper
-
?
intellectual diability, microcephaly, spasticity
1
2
Johan den Dunnen
00150145
26539891-FamBAB6530
PubMed: Karaca 2015
-
-
-
-
-
-
-
family structure in paper
-
?
intellectual diability, microcephaly
1
1
Johan den Dunnen
00183094
25644381-FamT48
PubMed: Hu 2016
family, 3 affected, 1 unaffected heterozygous carrier female
M
-
-
-
-
-
-
-
MRX;IDX
-
1
3
Johan den Dunnen
00183095
25644381-FamAU12
PubMed: Hu 2016
family, 3 affected, 3 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
MRX;IDX
-
1
3
Johan den Dunnen
00183141
25644381-FamD137
PubMed: Hu 2016
family, 2 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
MRX;IDX
-
1
2
Johan den Dunnen
00183165
25644381-FamL48
PubMed: Hu 2016
family, 3 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
MRX;IDX
-
1
3
Johan den Dunnen
00183169
25644381-FamAU54
PubMed: Hu 2016
family, 2 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
MRX;IDX
-
1
2
Johan den Dunnen
00183256
29446546-Pat1
PubMed: Pinz 2018
2-generation family, 1 affected, unaffected non-carrier parents
M
no
United States
-
-
-
-
-
?
see paper; ...,
1
1
Johan den Dunnen
00265339
Fam6PatIV1
PubMed: Dias 2019
-
M
yes
Egypt
-
-
-
-
-
ID
intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; no self-injury/hand-biting; bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms
1
2
Caroline Dias
00295095
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
21
Mohammed Faruq
00295096
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
3
Mohammed Faruq
00295097
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
1
Mohammed Faruq
00296770
APN-138
PubMed: Redin 2014
analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother/sister
M
-
France
-
-
-
-
-
ID
severe intellectual disability
1
1
Johan den Dunnen
00296774
APN-113
PubMed: Redin 2014
analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother
M
-
France
-
-
-
-
-
ID
severe intellectual disability, no dysmorphic traits, no urogenital abnormalities, no Heinz bodies
1
2
Johan den Dunnen
00305319
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
2
Mohammed Faruq
00305958
-
-
-
M
-
-
-
-
-
-
-
?
Abnormality of blood and blood-forming tissues (HP:0001871)
1
1
Andreas Laner
00307142
Patient 06
PubMed: Mendonca 2021
-
M
-
Brazil
-
-
-
-
-
RB1
Unilateral
1
1
Vanessa Mendonça
00307145
Patient 21
PubMed: Mendonca 2021
-
M
no
Brazil
-
-
-
-
-
RB1
Unilateral
1
1
Vanessa Mendonça
00307258
Patient 64
PubMed: Mendonca 2021
patient with retinoblastoma
M
-
Brazil
-
-
-
-
-
RB1
Bilateral
1
1
Vanessa Mendonça
00307692
-
-
-
M
-
-
-
-
-
-
-
?
Intellectual disability (HP:0001249); Autism (HP:0000717)
1
1
Andreas Laner
00307719
UK10K_FINDWGA5411056
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
ID
-
1
1
Johan den Dunnen
00307720
UK10K_FINDWGA5411171
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
ID
-
1
1
Johan den Dunnen
00307721
UK10K_FINDWGA5410920
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
ID
-
1
1
Johan den Dunnen
00307722
UK10K_FINDWGA5411357
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
ID
-
1
1
Johan den Dunnen
00307723
UK10K_FINDWGA5411068
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
ID
-
1
1
Johan den Dunnen
00307724
UK10K_FINDWGA5411170
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
ID
-
1
1
Johan den Dunnen
00307789
UK10K_FINDWGA5411356
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
ID
-
1
1
Johan den Dunnen
00307790
UK10K_FINDWGA5410693
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
ID
-
1
1
Johan den Dunnen
00314913
TrioN8
PubMed: Zhu 2015
-
M
-
United States
-
-
-
-
-
?
Bicuspid aortic valve, bilateral coronal craniosynostoses, dysmorphic features, quadriplegic cerebral palsy, bilateral inguinal hernias, G-tube placement, obstructive sleep apnea, and severe intellectual disability.
1
1
Johan den Dunnen
00315010
GDB1323
PubMed: Squeo 2020
analysis 263 cases chromatin-related disorder
-
-
Italy
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00315026
GDB1401
PubMed: Squeo 2020
analysis 263 cases chromatin-related disorder
-
-
Italy
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00315047
GDB1355
PubMed: Squeo 2020
analysis 263 cases chromatin-related disorder
-
-
Italy
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00361696
10DG1621
PubMed: Anazi 2017
simplex case
M
yes
Saudi Arabia
-
-
-
-
-
ID
not syndromic; intellectual disability, microcephaly, short stature, seizures
1
1
Johan den Dunnen
00374494
S-2432
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
?
Cerebral atrophy and global developmental delay
1
1
Johan den Dunnen
00374601
S-4021
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00374668
S-2252
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00381848
184335
-
-
M
no
Germany
-
-
-
-
-
ATRX
Intellectual disability, Intellectual disability, moderate, Muscular hypotonia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Microcephaly, Drooling
1
1
Andreas Laner
00387731
M222
PubMed: Hu 2019
family, 2 affected individuals, first cousin parents once removed
-
yes
Iran
Persia
-
-
-
-
ID
syndromic intellectual disability, no microcephaly
1
2
Johan den Dunnen
00387865
M8900286
PubMed: Hu 2019
family, 2 affected individuals, second cousin parents
-
yes
Iran
Persia
-
-
-
-
ID
syndromic intellectual disability, no microcephaly
1
2
Johan den Dunnen
00440460
PED2404.1
PubMed: Nambot 2018
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
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