All individuals with variants in gene ATP7A

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.

452 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000040	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000041	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000093	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000108	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	developmental delay, intellectual disability, partial agenesis of corpus callosum, behavioral issues, attention deficit hyperactivity disorder, bilateral hearing loss, dysmorphic features, joint hypermobility, hypopigmented macules	1	1	Gerard C.P. Schaafsma
00000109	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Gerard C.P. Schaafsma
00000110	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Gerard C.P. Schaafsma
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)	5	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)	7	1	Yu Sun
00034845	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034846	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034847	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00172347	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	10	Lucy Raymond
00172348	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00183134	25644381-FamP161	PubMed: Hu 2016	family, 3 affected, 2 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	3	Johan den Dunnen
00269887	-	-	-	?	-	-	-	-	-	-	-	?	Global developmental delay (HP:0001263); Seizures (HP:0001250); Ataxia (HP:0001251); Congenital finger flexion contractures (HP:0005879)	1	1	IMGAG
00295098	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00295099	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295100	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00295101	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00296874	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of movement (HP:0100022); Motor tics (HP:0100034); Phonic tics (HP:0100035); Intellectual disability (HP:0001249); Abnormality of nervous system physiology (HP:0012638); Parkinsonism (HP:0001300); Abnormality of extrapyramidal motor function (HP:0002071); Abnormality of refraction (HP:0000539); Hypermetropia (HP:0000540); Abnormality of the sternum (HP:0000766); Pectus excavatum (HP:0000767)	1	1	Andreas Laner
00300034	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00303299	Pat4	Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	NDD	height 165.5 cm (SD −1.51), weight 56.9kg (SD −1.25), OFC 59 cm (SD 1.42); severemild developmental delay/intellectual disability; 4y-5y-walk; 5y-first words, speech 10 words; 10m-intractable seizures (myoclonic/tonic); MRI possible focal cortical dysplasia, volume loss; muscular hypotonia; autism, aggression, hyperactivity; multicystic kidneys; cryptorchidism; s/p pyloroplasty, nissen fundoplication, G-tube; kyphosis, scoliosis; sleep apnea, chronic lung disease, bronchopulmonary dysplasia, Sotos syndrome	1	1	Johan den Dunnen
00312101	-	PubMed: Levinson 1996	single case	-	-	-	-	-	-	-	-	OHS	OHS	1	1	Zeynep Tümer
00312102	-	PubMed: Gerard-Blanluet 2004	single case	-	-	-	-	-	-	-	-	MNK	Classical, horns at 2.5y	1	1	Zeynep Tümer
00312103	-	PubMed: Tümer 1997	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312104	-	PubMed: Das 1994	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312105	-	PubMed: Das 1994, PubMed: Vulpe 1993	single case	-	-	-	-	-	-	-	Cu treatment	MNK	Classical	1	1	Zeynep Tümer
00312106	-	PubMed: Tümer 1996, PubMed: George and Casey 2001	single case, mother carrier	-	-	-	-	-	-	-	Cu treatment	MNK	-	1	1	Zeynep Tümer
00312107	pat1	PubMed: Ogawa 1999	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312108	-	PubMed: Tümer 1997	familial, Mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312109	-	PubMed: Tümer 1997	familial, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312110	-	PubMed: Das 1994	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312111	-	PubMed: Gu 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312112	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312113	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312114	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312115	-	PubMed: Gu 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312116	-	PubMed: Das 1994, PubMed: Kaler 1996, PubMed: Kim 2003, PubMed: Kaler 2010, PubMed: Skjørringe 2011, PubMed: Bell 2011	family, 3 members, 1 alive 18m	-	-	-	-	-	-	-	3 members, 1 Cu treatment from day 8, normal (in 1996)	MNK	Classical	1	3	Zeynep Tümer
00312117	-	PubMed: Tümer 1997	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312118	-	PubMed: Gu 2007, PubMed: Gu2012	Gu 2012 (patient12)	M	-	Japan	-	-	-	-	-	MNK	Classical	1	2	Zeynep Tümer
00312119	patient 21	PubMed: Moizard 2010	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312120	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312121	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312122	-	PubMed: Gu 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312123	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312124	-	PubMed: Tümer 1996	single case, mother carrier	-	-	-	-	-	-	-	Cu treatment	MNK	-	1	1	Zeynep Tümer
00312125	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312126	-	PubMed: Tümer 1997	familial, sister carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312127	patient 22	PubMed: Moizard 2010	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312128	-	PubMed: Zhang 2008	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312129	-	PubMed: Gu 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312130	-	PubMed: Tümer 1997	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312131	-	PubMed: Gu 2001, PubMed: Skjørringe 2011	-	-	-	-	-	-	-	-	-	MNK	Classical	1	2	Zeynep Tümer
00312132	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312133	patient 3	PubMed: Mak 2002	mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312134	patient 23	PubMed: Moizard 2010	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312135	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312136	-	PubMed: Tümer 1997	familial, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312137	-	PubMed: Gu 2001, PubMed: Gu 2002, PubMed: Skjørringe 2011	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	3	Zeynep Tümer
00312138	-	PubMed: Gu 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312139	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312140	-	PubMed: Ambrosini 1999	familial, mother carrier	-	-	-	-	-	-	-	Cu treatment; half-brother not treated	MNK	Classical, half-brother died 14m	1	1	Zeynep Tümer
00312141	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312142	-	PubMed: Tümer 1997	familial	-	-	-	-	-	-	-	-	MNK	Classical; index 4y8m, brother 7m	1	1	Zeynep Tümer
00312143	-	PubMed: Gu 2001, PubMed: Gu 2002	-	-	-	-	-	-	-	-	-	MNK	Classical	1	2	Zeynep Tümer
00312144	-	PubMed: Dagenais 2001	familial, single patient	-	-	-	-	-	-	-	-	OHS	OHS	1	1	Zeynep Tümer
00312145	-	PubMed: Das 1994 PubMed: Bell 2011	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312146	-	PubMed: Gu 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312147	patient 9	PubMed: Kaler 2010	-	-	-	-	-	-	-	-	Cu treatment from day 7, moderate delay	MNK	-	1	1	Zeynep Tümer
00312148	-	PubMed: Kaler 2009, PubMed: Kaler 2010	familial	-	-	-	-	-	-	-	Index Cu treatment 8 days>3years, normal development, occipital horns 11.5yr	MNK	Sibling Classical; Index alive 11y6m; sibling died 6m	1	2	Zeynep Tümer
00312149	patient 17	PubMed: Moizard 2010	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312150	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312151	-	PubMed: Gu 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312152	-	PubMed: Gu 2001, PubMed: Gu 2002, PubMed: Gu2012	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	2	Zeynep Tümer
00312153	-	PubMed: Tümer 1997	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312154	patient 11	PubMed: Kaler 2010	-	-	-	-	-	-	-	-	Cu treatment from day 16, severe delay	MNK	-	1	1	Zeynep Tümer
00312155	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312156	-	PubMed: Das 1994	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312157	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312158	Patient 1	PubMed: Watanabe 2005	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312159	-	PubMed: Gu 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312160	-	PubMed: Hahn 2001	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312161	-	PubMed: Hahn 2001	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312162	patient 18	PubMed: Moizard 2010	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312163	-	PubMed: Tümer 1997	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312164	-	PubMed: Ogawa 2000	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312165	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312166	patient 1	PubMed: Mak 2002	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312167	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312168	-	PubMed: Kim 2011	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312169	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312170	-	PubMed: Tümer 1997	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312171	-	PubMed: Gu 2001, PubMed: Gu 2002	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	2	Zeynep Tümer
00312172	-	PubMed: Jankov 1998	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312173	patient 19	PubMed: Moizard 2010	familial	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312174	-	PubMed: Gu 2001, PubMed: Gu 2002, PubMed: Gu2012	-	-	-	-	-	-	-	-	-	MNK	Classical	1	2	Zeynep Tümer
00312175	-	PubMed: Ozawa 2001	single case	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312176	-	PubMed: Gu 2002	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312177	Patient2	PubMed: Watanabe 2005	-	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer
00312178	-	PubMed: Tümer 1997	single case, mother carrier	-	-	-	-	-	-	-	-	MNK	Classical	1	1	Zeynep Tümer

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Global Variome shared LOVD

ATP7A (ATPase, Cu++ transporting, alpha polypeptide)