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.

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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Global Variome shared LOVD

ATRX (ATRX chromatin remodeler)