All individuals with variants in gene LZTR1

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.

182 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00017623	-	PubMed: Paganini 2015, Journal: Paganini 2015	2-generation family, 1 affected, unaffected carrier fatehr	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	2	Laura Papi
00017624	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017625	-	PubMed: Paganini 2015, Journal: Paganini 2015	2-generation family, affected father/son	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	2	Laura Papi
00017628	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017629	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017630	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017631	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017632	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017633	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017634	-	PubMed: Paganini 2015, Journal: Paganini 2015	2-generation family, 2 affected brothers (1 not carrier) and unaffected carrier father	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	2	Laura Papi
00017635	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017636	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017637	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017638	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017639	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017640	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017641	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017642	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017643	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017644	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017645	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	no	-	-	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00017646	-	PubMed: Paganini 2015, Journal: Paganini 2015	-	F	-	-	-	-	-	-	-	SWNTS1	-	1	1	Laura Papi
00050438	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected father/child	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart	1	2	Johan den Dunnen
00050514	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema	1	1	Johan den Dunnen
00050542	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay	1	1	Johan den Dunnen
00050613	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy	1	1	Johan den Dunnen
00095759	-	PubMed: Ahronowitz 2007	CpG dinucleotide ; Mosaic	-	-	-	-	-	-	-	-	NF2	-	1	1	Beatrice Parfait
00095825	NF2 00522	-	-	-	-	France	-	-	-	-	-	NF2	-	1	1	Beatrice Parfait
00095831	-	PubMed: Ahronowitz 2007	CpG dinucleotide	-	-	-	-	-	-	-	-	NF2	-	1	1	Beatrice Parfait
00095836	INI00065	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095837	NF2 00218	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	ambiguous schwannomatosis	1	1	Beatrice Parfait
00095838	NF2 00515	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095839	NF2 00150	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095840	INI1 00004	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	Unilateral vestibular schwannoma	1	1	Beatrice Parfait
00095841	INI1 00106	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095842	INI 00046	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095843	NF2 00157	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	{PMID:Louvrier 2018:29409008}	1	1	Beatrice Parfait
00095844	INI1 00119	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	see paper; ..., schwannomatosis	1	1	Beatrice Parfait
00095845	-	-	CpG dinucleotide	-	-	-	-	-	-	-	-	SWNTS1	-	1	1	Beatrice Parfait
00095846	-	-	CpG dinucleotide	-	-	-	-	-	-	-	-	SWNTS1	-	1	1	Beatrice Parfait
00095847	-	-	CpG dinucleotide	-	-	-	-	-	-	-	-	SWNTS1	-	1	1	Beatrice Parfait
00095848	-	-	CpG dinucleotide	-	-	-	-	-	-	-	-	SWNTS1	-	1	1	Beatrice Parfait
00095849	-	-	CpG dinucleotide	-	-	-	-	-	-	-	-	SWNTS1	-	1	1	Beatrice Parfait
00095850	INI1 00117	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095851	INI1 00027	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095852	INI1 00030	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095853	INI1 00072	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095854	NF2 00188	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095855	INI1 00118	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095856	INI 00067	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095857	INI1 00104	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095858	INI1 00040	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095859	INI1 00008	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095860	NF2 00330	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095861	INI1 00010	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095862	NF2 00357	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095863	NF2 00248	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	Unilateral vestibular schwannoma	1	1	Beatrice Parfait
00095864	INI1 00032	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095865	INI1 00078	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095866	INI 00017	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095867	NF2 00364	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00095868	INI1 00105	PubMed: Louvrier 2018	-	-	-	France	-	-	-	-	-	SWNTS	-	1	1	Beatrice Parfait
00206926	-	-	Schwannomatosis OMIM#162091	F	-	-	-	01y	-	-	-	LGSS	-	1	1	Marica Eoli
00206927	-	-	-	F	-	Italy	-	12y	-	-	-	SWNTS	-	1	1	Marica Eoli
00206928	-	-	-	M	-	-	-	06y	-	-	-	SWNTS	-	1	1	Marica Eoli
00206929	-	-	-	F	-	Italy	-	48y	-	-	-	SWNTS	-	1	1	Marica Eoli
00208788	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0000256 (Macrocephaly); HP:0011342 (Mild global developmental delay); HP:0002121 (Absence seizures); HP:0002197 (Generalized seizures)	1	1	Andreas Laner
00231387	-	-	-	F	-	-	-	-	-	-	-	-	HP:0001067 (Neurofibromas)	1	1	Gunnar Schmidt
00269345	-	-	-	F	-	-	-	-	-	-	-	?	Breast carcinoma (HP:0003002)	1	1	Andreas Laner
00295648	-	-	-	M	-	-	-	-	-	-	-	?	Schwannoma (HP:0100008)	1	1	Andreas Laner
00295979	-	-	-	F	-	-	-	-	-	-	-	?	Multiple cafe-au-lait spots (HP:0007565)	1	1	Andreas Laner
00299689	-	-	-	M	-	-	-	-	-	-	-	?	Schwannoma (HP:0100008)	1	1	Andreas Laner
00314739	-	-	-	-	-	-	-	-	-	-	-	NS	-	1	1	Dilek Uludag Alkaya
00314740	-	-	-	-	-	-	-	-	-	-	-	NS	-	1	1	Dilek Uludag Alkaya
00314741	-	-	-	-	-	-	-	-	-	-	-	NS	-	1	1	Dilek Uludag Alkaya
00324655	SUDS028	PubMed: Neubauer 2021	-	F	-	Switzerland	Europe	38y	-	-	-	SUD	SUD	1	1	Cordula Haas
00324658	SUDS075	PubMed: Neubauer 2021	-	M	-	Switzerland	Europe	38y	-	-	-	SUD	SUD	1	1	Cordula Haas
00335724	-	-	-	F	-	-	-	-	-	-	-	?	Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Hypertrophic cardiomyopathy (HP:0001639)	1	1	IMGAG
00359458	-	-	-	F	-	-	-	-	-	-	-	?	Microcephaly (HP:0000252); Autism (HP:0000717); Global developmental delay (HP:0001263); Dystonia (HP:0001332); Failure to thrive (HP:0001508); Ventricular septal defect (HP:0001629); Cardiomyopathy (HP:0001638); Hypertrophic cardiomyopathy (HP:0001639); Short stature (HP:0004322); Supravalvular aortic stenosis (HP:0004381); Attention deficit hyperactivity disorder (HP:0007018); Neurodevelopmental delay (HP:0012758)	2	1	IMGAG
00373648	-	-	-	M	-	-	-	-	-	-	-	?	Global developmental delay (HP:0001263); Hypertrophic cardiomyopathy (HP:0001639); Short stature (HP:0004322); Ventricular tachycardia (HP:0004756)	2	1	IMGAG
00382166	182998	-	-	M	?	Germany	-	-	-	-	-	SWNTS2	Schwannoma	1	1	Andreas Laner
00383050	-	-	-	-	-	Cyprus	-	-	-	-	-	?	-	1	1	Andri Miltiadous
00385424	Fam2PatII1	PubMed: Motta 2021	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Turkey	-	-	-	-	-	NS	height 122.2 cm (SD-1.00), weight 22 kg (SD-1.09), OFC 51 cm (SD+0.86); mild developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia during infancy; congenital heart defect, pulmonary valve stenosis, pulmonary balloon valvuloplasty; small secundum ASD; hypertrophic cardiomyopathy, (asymmetrical hypertrophy interventricular septum; pectus carinatum superiorly and pectus excavatum inferiorly, wide and short shield chest; hyperlaxity; limited extension of elbows, cubitus valgus, winged shoulder blades, kyphosis, mild pes valgus and pes planus; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; triangular coarse face, sparse eyebrows, sparse eyelashes, downward slanted palpebral fissures, epicanthus, nasolacrimal duct stenosis, prominent nasolabial sulci, pointed receding chin; no café-au-lait spots; no freckling; sparse and curly hair, sparse and thin eyebrows and eyelashes, scaly and dry skin, eczematous skin, loose and thick skin, deep palmar creases; bilateral cryptorchidism; no lymphatic involvement; partial FXII deficiency (0.248 activity); no hematological abnormalities; atopic skin features, nasolacrimal duct stenosis, exotropia, bone pain and myalgia; trans-fontanelle USG left lateral ventriculomegaly; renal USG bilateral grade 2 medullary nephrocalcinosis	1	1	Johan den Dunnen
00414238	200506	-	-	M	?	Germany	-	-	-	-	-	SWNTS2	Peripheral Schwannoma, Cafe-au-lait spot	1	1	Andreas Laner
00428256	211995	-	-	F	yes	-	-	-	-	-	-	NS2	Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Cardiomyopathy, sister died at 10 month of cardiomyopathy	1	1	Andreas Laner
00435599	Pat5	PubMed: Niggl 2023	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	NDD	see paper; ..., normal pregnancy, birth 40w; 10m-first words; 1y3m-walk; only words, poor articulation, mixed receptive-expressive language disorder, dysarthria; mild intellectual disability; delayed gross motor skills; delayed fine motor skills; no seizures; hypotonia; no movement disorder; MRI normal; ADHD combined type, anxiety; difficulty falling asleep; long facial profile, deep-set eyes prominent nose, depressed nasal bridge, bilateral 5th finger clinodactyly, thin upper lip; myopia strabismus; normal hearing; no feeding problems; no recurrent infections	1	1	Johan den Dunnen
00443842	Pat655	PubMed: Imafidon 2021	prenatal indication abnormal ultrasound	M	-	Netherlands	-	-	-	-	-	?	cardiac malformation, dysmorphic features	1	1	Johan den Dunnen
00444048	PID_16	PubMed: Sarker 2023	family history	M	-	Bangladesh	-	-	-	-	-	DMD	calf hypertrophy; no Gower sign positive; elevated CPK level (18160 U/L); feeding difficulties; no toe walking; no poor walking/running ability; no difficulty climbing stairs; waddling feet/gait; no seizure; no muscle weakness; no skinny legs/arms; delayed developmental milestones; intellectual disability; delayed speech; hyperactive	1	1	Johan den Dunnen
00448270	-	-	-	M	-	Italy	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448271	-	-	-	F	-	Italy	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448272	-	-	-	F	-	Italy	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448273	-	-	-	F	-	Italy	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448274	-	-	-	F	-	-	-	-	-	-	-	cafe-au-lait spots, multiple	-	2	1	Alessandro De Luca
00448275	-	-	-	M	-	-	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448276	-	-	-	F	-	-	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448277	-	-	-	M	-	-	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448278	-	-	-	-	-	-	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448279	-	-	-	-	-	-	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448280	-	-	-	F	-	-	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca
00448282	-	-	-	F	-	-	-	-	-	-	-	cafe-au-lait spots, multiple	-	1	1	Alessandro De Luca

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Global Variome shared LOVD

LZTR1 (leucine-zipper-like transcription regulator 1)