Disease #00187 (MRX;IDX (mental retardation, X-linked (MRX, intellectual disability (IDX))))

Official abbreviation	MRX;IDX
Name	mental retardation, X-linked (MRX, intellectual disability (IDX))
OMIM ID	-
Inheritance	-
Individuals reported having this disease	1921
Phenotype entries for this disease	1900
Associated with 3 genes	ARX, CXorf56, IL1RAPL1
Associated tissues	-
Disease features	X-linked
Remarks	-
Date created	2013-09-05 15:56:47 +02:00 (CEST)
Date last edited	2018-12-18 09:23:21 +01:00 (CET)

Individuals

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.

1921 entries on 20 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00000166	-	PubMed: Tarpey 2009	208 families with X-linked mental retardation	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	for details contact Lucy Raymond	HSD17B10, OFD1	HSD17B10, OFD1	3	208	Johan den Dunnen
00000406	-	PubMed: Cacciagli 2014	5-generation family, 4 affecteds, 3 unaffected carrier females	M	no	United States	Dutch	-	-	-	-	MRX;IDX	see paper, {PMID:Huang 1991:1746558}; mental retardation, Dandy-Walker malformation, basal ganglia disease, seizures	AP1S2	AP1S2	1	4	Laurent Villard
00002444	19377101-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	BCOR	BCOR	1	1	Lucy Raymond
00002445	19377102-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	BCOR	BCOR	1	167	Lucy Raymond
00002446	19377103-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	BCOR	BCOR	1	1	Lucy Raymond
00002447	19377104-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	BCOR	BCOR	1	14	Lucy Raymond
00002448	19377105-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	BCOR	BCOR	1	1	Lucy Raymond
00002449	19377106-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	BCOR	BCOR	1	1	Lucy Raymond
00003120	-	PubMed: Raynaud 2000	family MRX74, 3-generation family, 6 affecteds and 4 healthy carrier females	M	no	France	-	-	-	-	-	MRX;IDX	-	EFHC2	EFHC2	1	10	Johan den Dunnen
00003121	19377107-Pat?	PubMed: Tarpey 2009	only summary data are given -	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	EFHC2	EFHC2	1	1	Lucy Raymond
00003122	19377108-Pat?	PubMed: Tarpey 2009	summary data are given -	M	no	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	EFHC2	EFHC2	1	1	Lucy Raymond
00003123	19377109-Pat?	PubMed: Tarpey 2009	only summary data are given -	M	no	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	EFHC2	EFHC2	1	12	Lucy Raymond
00003124	19377110-Pat?	PubMed: Tarpey 2009	only summary data are given -	M	no	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	EFHC2	EFHC2	1	15	Lucy Raymond
00003125	19377111-Pat?	PubMed: Tarpey 2009	only summary data are given -	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	EFNB1	EFNB1	1	1	Lucy Raymond
00003126	19377112-Pat?	PubMed: Tarpey 2009	only summary data are given -	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	EFNB1	EFNB1	1	1	Lucy Raymond
00003177	-	PubMed: Stromme 2002	family, 7 affected males	M	no	Australia	-	-	-	-	-	MRX;IDX	mental retardation	ARX	ARX	1	7	Johan den Dunnen
00003178	-	PubMed: Stromme 2002	family, 4 affected males	M	no	Australia	-	-	-	-	-	MRX;IDX	mental retardation	ARX	ARX	1	4	Johan den Dunnen
00004306	19377113-Pat?	PubMed: Tarpey 2009	-	?	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	G6PD	G6PD	1	1	Lucy Raymond
00004307	19377114-Pat?	PubMed: Tarpey 2009	-	?	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	G6PD	G6PD	1	1	Lucy Raymond
00004308	19377115-Pat?	PubMed: Tarpey 2009	-	?	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	G6PD	G6PD	1	1	Lucy Raymond
00016861	Pat21	PubMed: Tzschach 2015	2-generation family, 1 affected, heterozygous carrier mother/sister	M	-	-	-	-	-	-	-	MRX;IDX	moderate intellectual disability short stature (152 cm, <3rd centile), macrocephaly (59 cm), cryptorchidism, hypogenitalism, dental crowding, tapering fingers, facial dysmorphism, large ears, fleshy earlobes, synophrys, narrow palpebral fissures; sister learning problems, similar facial features	PHF6	PHF6	1	1	Andreas Tzschach
00016919	19377116-Pat?	PubMed: Tarpey 2009	.	M	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	USP9X	USP9X	1	4	Lucy Raymond
00016920	19377117-Pat?	PubMed: Tarpey 2009	.	M	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	USP9X	USP9X	1	1	Lucy Raymond
00016921	19377118-Pat?	PubMed: Tarpey 2009	.	M	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	USP9X	USP9X	1	1	Lucy Raymond
00016923	19377119-Pat?	PubMed: Tarpey 2009	.	M	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	-	-	-	1	Lucy Raymond
00016924	-	PubMed: Tarpey 2009	3-generation family, 3 affected males, 2 unaffected carrier females	M	no	-	-	-	-	-	-	MRX;IDX	-	USP9X	USP9X	1	1	Johan den Dunnen
00016931	-	PubMed: Tarpey 2004, Journal: Tarpey 2004	4-generation family, 5 affected males, 4 unaffected carrier females	M	no	Australia	-	-	-	-	-	MRX;IDX	see paper; {PMID:Turner 2003:12599187}	AP1S2	AP1S2	1	5	Johan den Dunnen
00016932	Fam1	PubMed: Tzschach 2015	family, 4 affected, unaffected heterozygous carriermother/grandmother	M	-	Poland	-	-	-	-	-	MRX;IDX	moderate-severe intellectual disability, occasional aggressive outbursts, microcephaly, height 180 cm (75th centile), weight 65 kg (25-50th centile), OFC 52 cm (<3rd centile); 3 affected male maternal cousins, 1 hydrocephalus died shortly after birth, 1 died age 3y, 1 moderate intellectual disability	AP1S2	AP1S2	1	4	Andreas Tzschach
00016952	19377120-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	DLG3	DLG3	1	1	Lucy Raymond
00016953	19377121-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	DLG3	DLG3	1	1	Lucy Raymond
00016954	19377122-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	KDM5C	KDM5C	1	1	Lucy Raymond
00016955	19377123-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	KDM5C	KDM5C	1	1	Lucy Raymond
00016956	19377124-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	KDM5C	KDM5C	1	1	Lucy Raymond
00016957	19377125-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	KDM5C	KDM5C	1	1	Lucy Raymond
00016958	19377126-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	OPHN1	OPHN1	1	12	Lucy Raymond
00016959	19377127-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	OPHN1	OPHN1	1	1	Lucy Raymond
00016960	19377128-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	OPHN1	OPHN1	1	1	Lucy Raymond
00016961	19377129-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	OPHN1	OPHN1	1	1	Lucy Raymond
00016962	19377130-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	SLC16A2	SLC16A2	1	1	Lucy Raymond
00016963	19377131-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	UBE2A	UBE2A	1	1	Lucy Raymond
00016964	19377132-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	UBE2A	UBE2A	1	1	Lucy Raymond
00016965	19377133-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	CUL4B	CUL4B	1	1	Lucy Raymond
00016966	19377134-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	CUL4B	CUL4B	1	1	Lucy Raymond
00016967	19377135-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	CUL4B	CUL4B	1	1	Lucy Raymond
00016968	19377136-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	CUL4B	CUL4B	1	1	Lucy Raymond
00016969	19377137-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	CUL4B	CUL4B	1	1	Lucy Raymond
00016970	19377138-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	CUL4B	CUL4B	1	1	Lucy Raymond
00016971	19377139-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	CUL4B	CUL4B	1	1	Lucy Raymond
00016972	19377140-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	UPF3B	UPF3B	1	1	Lucy Raymond
00016973	19377141-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	UPF3B	UPF3B	1	1	Lucy Raymond
00016974	19377142-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	UPF3B	UPF3B	1	1	Lucy Raymond
00016975	19377143-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	UPF3B	UPF3B	1	1	Lucy Raymond
00016976	19377144-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	ZDHHC9	ZDHHC9	1	1	Lucy Raymond
00016977	19377145-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	ZDHHC9	ZDHHC9	1	1	Lucy Raymond
00016978	19377146-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	ZDHHC9	ZDHHC9	1	1	Lucy Raymond
00016979	-	PubMed: Shoubridge 2010, Journal: Shoubridge 20105	5-generation family, 8 affected males, 7 unaffected heterozygous carrier females	M	no	United States	?	-	-	-	-	MRX;IDX	see paper; ...	IQSEC2	IQSEC2	1	8	Johan den Dunnen
00016980	-	PubMed: Shoubridge 2010, Journal: Shoubridge 20105	5-generation family, 12 affected males, 5 unaffected heterozygous carrier females, 2 with learning problems	M	no	Australia	8	-	-	-	-	MRX;IDX	moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ...	IQSEC2	IQSEC2	1	1	Johan den Dunnen
00016981	-	PubMed: Shoubridge 2010, Journal: Shoubridge 20105	5-generation family, 12 affected males, 8 unaffected heterozygous carrier females	M	no	Australia	-	-	-	-	-	MRX;IDX	all affected males remained non-syndromic with general good health; 2 males (III6,IV22) developed psychiatric problems and V5 has infrequent seizures; carrier females were less academically ablecompared to their non-carrier siblings; majority carrier F are well (1 developed schizophrenia)	IQSEC2	IQSEC2	1	12	Johan den Dunnen
00016982	19377147-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	MED12	MED12	1	1	Lucy Raymond
00016983	19377148-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	MED12	MED12	1	1	Lucy Raymond
00016984	19377149-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	MED12	MED12	1	54	Lucy Raymond
00016985	19377150-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	MED12	MED12	1	1	Lucy Raymond
00016986	19377151-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	MED12	MED12	1	2	Lucy Raymond
00016987	Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	SLC9A6	SLC9A6	1	1	Lucy Raymond
00016988	Fam2	PubMed: Gilfillan 2008, PubMed: Tarpey 2009	3-generation family, 2 affected males, 3 female carriers unaffected	M	-	Sweden	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance; epilepsy; ataxia; no hyperkinetic movements; squint; microcephaly (2.5th); open mouth, drooling; swallowing difficulty; ECG epileptiform activity, background frequency 1.5-3 Hz	SLC9A6	SLC9A6	1	2	Lucy Raymond
00016989	Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	SLC9A6	SLC9A6	1	1	Lucy Raymond
00016990	Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	SLC9A6	SLC9A6	1	9	Lucy Raymond
00016991	Fam4	PubMed: Tarpey 2009, PubMed: Christianson 1999, PubMed: Gilfillan 2008	family, 2 affected males	M	-	South Africa	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	see paper; ..., profound developmental delay; no speech, no easily provoked laughter; epilepsy; ataxia; no hyperkinetic movements; squint; microcephaly (3/4); swallowing difficulty (1/4); flexed arms; ECG epileptiform activity, background frequency 4-7 Hz; MRI brain cerebellar atrophy	SLC9A6	SLC9A6	1	2	Lucy Raymond
00016992	Pat?	PubMed: Tarpey 2009	-	?	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	SLC9A6	SLC9A6	1	1	Lucy Raymond
00016996	-	-	-	?	-	-	?	-	-	-	-	MRX;IDX	-	SLC9A6	SLC9A6	1	1	Birgit Neitzel
00016997	-	-	-	?	-	-	?	-	-	-	-	MRX;IDX	-	SLC9A6	SLC9A6	1	1	Birgit Neitzel
00016998	-	-	-	?	-	-	?	-	-	-	-	MRX;IDX	-	SLC9A6	SLC9A6	1	1	Birgit Neitzel
00016999	-	-	-	?	-	-	?	-	-	-	-	MRX;IDX	-	SLC9A6	SLC9A6	1	1	Birgit Neitzel
00017000	-	-	-	?	-	-	?	-	-	-	-	MRX;IDX	-	SLC9A6	SLC9A6	1	1	Birgit Neitzel
00017001	Fam1	PubMed: Gilfillan 2008	3-generation family, 3 affected males, 3 female carriers unaffected	M	-	Norway	?	-	-	-	-	MRX;IDX	see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance (1/3); epilepsy; ataxia; hyperkinetic movements (2/3); squint; microcephaly; open mouth (2/3), drooling (2/3); swallowing difficulty (2/3); flexed arms; ECG epileptiform activity, background frequency 10-11 Hz; MRI brain cerebellar atrophy (1/3)	SLC9A6	SLC9A6	1	3	Johan den Dunnen
00017002	Fam3	PubMed: Gilfillan 2008	3-generation family, 3 affected males, 1 female carrier unaffected	M	-	United Kingdom (Great Britain)	?	-	-	-	-	MRX;IDX	see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance (1/3); epilepsy; ataxia; hyperkinetic movements; squint; microcephaly; open mouth, drooling; swallowing difficulty (1/3); flexed arms (1/3); ECG epileptiform activity, background frequency 4-7 Hz	SLC9A6	SLC9A6	1	3	Johan den Dunnen
00017006	Fam5	PubMed: Tzschach 2015	2-generation family, affected boy and maternal uncle, unaffected heterozygous carrier mother/grandmother	M	-	-	?	-	-	-	-	MRX;IDX	moderate intellectual disability, macrocephaly (OFC 60 cm, >97th centile), short stature (height 163 cm, <3rd centile), cryptorchidism, submucous cleft palate surgically corrected, bilateral partial optic atrophy without deleterious effects on vision; maternal uncle similar clinical problems, no cleft palate, no optic atrophy	CUL4B	CUL4B	1	2	Andreas Tzschach
00017007	Fam6	PubMed: Tzschach 2015	2-generation family, 2 affected brothers, unaffected heterozygous carrier mother	M	-	-	?	-	-	-	-	MRX;IDX	moderate intellectual disability, macrocephaly, obesity	CUL4B	CUL4B	1	2	Andreas Tzschach
00017008	Pat14	PubMed: Tzschach 2015	-	M	-	Turkey	?	-	-	-	-	MRX;IDX	intellectual disability, borderline short stature (height 142 cm, 3rd centile), borderline microcephaly (OFC 52 cm, 3rd-10th centile), normal weight (40 kg, 25th centile), body proportions gave impression central obesity; 12y-hearing loss; coarse face, small ears, broad nose, bulbous nasal tip, epicanthus, thick lips, everted lower lip, brachydactyly, bilateral 2/3 toe syndactyly, sandal gap	CUL4B	CUL4B	1	1	Andreas Tzschach
00017014	Fam7	PubMed: Tzschach 2015	2-generation family, 1 affected, unaffected non-carrier mother	M	-	-	?	-	-	-	-	MRX;IDX	severe non-syndromic intellectual disability	IQSEC2	IQSEC2	1	1	Andreas Tzschach
00017015	Pat19	PubMed: Tzschach 2015	-	F	-	-	?	-	-	-	-	MRX;IDX	severe intellectual disability, epilepsy, borderline macrocephaly	IQSEC2	IQSEC2	1	1	Andreas Tzschach
00017016	Fam8	PubMed: Tzschach 2015	2-generation family, 2 affected brothers, unaffected carrier mother	M	-	-	?	-	-	-	-	MRX;IDX	severe intellectual disability, OFC 90th centile, short stature, strabismus; younger brothe short stature, moderate intellectual disability, OFC 10th centile, cryptorchidism	KDM5C	KDM5C	1	2	Andreas Tzschach
00017017	Fam10	PubMed: Tzschach 2015, (Maiwald in preparation	2-generation family, 2 affected brothers/mother	M	-	-	?	-	-	-	-	MRX;IDX	brothers moderate intellectual disability, short stature, microcephaly; mother learning problems	MED12	MED12	1	2	Andreas Tzschach
00017018	Fam11	PubMed: Tzschach 2015	2-generation family, 2 affected brothers, unaffected heterozygous carrier mother	M	-	-	?	-	-	-	-	MRX;IDX	brothers mild-moderate intellectual disability, cryptorchidism, strabismus, slightly ataxic gait, borderline obesity, normal height, normal OFC, MRI brain cerebellar hypoplasia, slight atrophy frontal cortex; younger brother multiple cysts left kidney	OPHN1	OPHN1	1	2	Andreas Tzschach
00017019	Fam12	PubMed: Tzschach 2015	-	M	-	-	?	-	-	-	-	MRX;IDX	moderate intellectual disability, facial dysmorphism, hypertelorism, epicanthus; mothe mild intellectual disability, psychiatric problems; maternal uncle had severe intellectual disability	UPF3B	UPF3B	1	1	Andreas Tzschach
00017020	Fam13	PubMed: Tzschach 2015	family, 4 affected males	M	-	Turkey	?	-	-	-	-	MRX;IDX	moderate intellectual disability, normal body measurements; 10y-surgery for left-sided ureteropelvic junction obstruction, postoperative keloid; mild cutaneous syndactyly 2nd and 3rd toes, no malformations, no significant dysmorphic signs; 3 maternal aunt cousins similar phenotype, strabismus (1/4)	ZDHHC9	ZDHHC9	1	4	Andreas Tzschach
00017021	Pat15	PubMed: Tzschach 2015	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	-	?	-	-	-	-	MRX;IDX	mild-moderate intellectual disability, 3y-seizures, no malformations, no facial dysmorphism, MRI brain normal	DLG3	DLG3	1	1	Andreas Tzschach
00017022	Pat16	PubMed: Tzschach 2015	conceived after anonymous egg donation	M	-	-	?	-	-	-	-	MRX;IDX	born 36w, low birth measurements, length 46 cm (<3rd centile), weight 2410 g (<3rd centile), OFC 32.5 cm (<3rd centile); psychomotor development severely retarded, 2y-seizures; 4y-not walk, no speech, strabismus, OFC 46 cm (3 cm below the 3rd centile)	SLC9A6	SLC9A6	1	1	Andreas Tzschach
00017023	Pat6;Pat18	PubMed: Czeschik 2013, PubMed: Tzschach 2015	2-generation family, 1 affected, unaffected non-carrier mother	M	-	-	?	-	-	-	-	MRX;IDX	born at term, large body measurements, length, weight/OFC >97th centile, congenital heart disease, muscular hypotonia, feeding difficulties; first months seizures; psychomotor development severely retarded; MRI brain progressive brain atrophy	UBE2A	UBE2A	1	1	Andreas Tzschach
00017024	Pat20	PubMed: Tzschach 2015	family, 1 affected, unaffected heterozygous carrier mother/grandmother	M	-	-	?	-	-	-	-	MRX;IDX	severe intellectual disability, not able to walk, no speech, spastic paraplegia, dystonia, strabismus, optic atrophy, cryptorchidism, short stature (150 cm, <3rd centile), severely underweight (28 kg), OFC 54 cm (3rd-10th centile); 2y6m-MRI brain severely delayed myelination; thyroid parameters showed low T4, normal TSH, elevated T3	SLC16A2	SLC16A2	1	1	Andreas Tzschach
00017030	Fam9	PubMed: Tzschach 2015	2-generation family, affected son/sister/mother	F;M	-	-	?	-	-	-	-	MRX;IDX	moderate intellectual disability, 6y-seizures; sister mild intellectual disability, 47y-short stature (height 148 cm, <3rd centile), microcephaly (OFC 50.5 cm, <3rd centile), obese (weight 87 kg), strabismus, hyperopia, no seizures; mother learning problems, 66y-died	KDM5C	KDM5C	1	3	Andreas Tzschach
00017895	19377158-Pat?	PubMed: Tarpey 2009	-	M	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	IL1RAPL1	IL1RAPL1	1	1	Lucy Raymond
00017896	19377159-Pat?	PubMed: Tarpey 2009	-	M	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	IL1RAPL1	IL1RAPL1	1	1	Lucy Raymond
00017898	-	PubMed: Carrie 1999	2-generation family, 3 affected brothers	M	no	-	-	-	-	-	-	MRX;IDX	-	IL1RAPL1	IL1RAPL1	1	3	Johan den Dunnen
00017899	-	PubMed: Carrie 1999	-	M	no	-	-	-	-	-	-	MRX;IDX	-	IL1RAPL1	IL1RAPL1	1	1	Johan den Dunnen
00024220	-	PubMed: Wibley 2010	4-generation family, 7 affecteds, unafected carrier females	M	no	-	-	-	-	-	-	MRX;IDX	moderate ID, nonsyndromic	CUL4B	CUL4B	1	7	Johan den Dunnen
00024221	-	PubMed: Wibley 2010	3-generation family, 3 affecteds, unaffected carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	PTCHD1	PTCHD1	1	3	Johan den Dunnen
00024222	-	PubMed: Wibley 2010	4-generation family, 3 affecteds, 2 carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	WDR13	WDR13	1	3	Johan den Dunnen
00024223	-	PubMed: Wibley 2010	2-generation family, 2 affecteds	M	-	-	-	-	-	-	-	MRX;IDX	degenerative eye disease	FAAH2	FAAH2	1	2	Johan den Dunnen
00024224	-	PubMed: Wibley 2010	2-generation family, 2 affecteds, carrier mother	M	-	-	-	-	-	-	-	MRX;IDX	-	GSPT2	GSPT2	1	2	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Global Variome shared LOVD

NDUFS3 (NADH dehydrogenase (ubiquinone) Fe-S protei...)