All individuals with variants in gene FBXO11

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.

54 entries on 1 page. Showing entries 1 - 54.

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
00155299	Individual 1	-	-	M	-	-	-	-	-	-	-	-	-	1	1	Jessica Becker
00155301	Individual 2	-	-	M	-	-	-	-	-	-	-	-	-	1	1	Jessica Becker
00164325	Jansen et al. Patient 1	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	hyperactivity (HP:0000752), hypotonia (HP:0001290), dysmorphism (HP:0001999), joint laxity (HP:0001388); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263)	2	1	Lisenka Vissers
00164340	Jansen et al. Patient 2	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	ASD (HP:0000729), hypotonia (HP:0001290), facial dysmorphism (HP:0001999), hypospadia (HP:0000047); moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164341	Jansen et al. Patient 3	Jansen, submitted	-	F	-	-	-	-	-	-	-	ID	mild intellectual disability (HP:0001256); global developmental delay (HP:0001263)	1	1	Lisenka Vissers
00164342	Jansen et al. Patient 4	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	ASD (HP:0000729); facial dysmorphism (HP:0001999),; CVI (HP:0100704); borderline intellectual disability (HP:0006889); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164343	Jansen et al. Patient 5	Jansen, submitted	-	F	-	-	-	-	-	-	-	ID	ASD (HP:0000729), ; ADHD (HP:0007018),; hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164346	Jansen et al. Patient 8	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	epilepsy (HP:0001250); hypotonia (HP:0001290),; Talipes equinovarus (HP:0001762); facial dysmorphism (HP:0001999),; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164347	Jansen et al. Patient 9	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	epilepsy (HP:0001250); hypotonia (HP:0001290),; anxiety (HP:0000739); facial dysmorphism (HP:0001999),; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164348	Jansen et al. Patient 10	Jansen, submitted	-	F	-	-	-	-	-	-	-	ID	Diabetes mellitus (HP:0100651); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164349	Jansen et al. Patient 11	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	hypotonia (HP:0001290),; obesity (HP:0001513),; Nasolacrimal duct obstruction (HP:0000579); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164350	Jansen et al. Patient 12	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	ADHD (HP:0007018),; Sleep apnea (HP:0010535),; hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164351	Jansen et al. Patient 13	Jansen, submitted	-	F	-	-	-	-	-	-	-	ID	hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164352	Jansen et al. Patient 14	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	facial dysmorphism (HP:0001999),; Overweight (HP:0025502); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164353	Jansen et al. Patient 15	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	ASD (HP:0000729), ; hypotonia (HP:0001290),; epilepsy (HP:0001250); severe intellectual disability (HP:0010864); no motor delay (-HP:0001270); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164354	Jansen et al. Patient 16	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; atrial septal defect (HP:0001631); hydronephrosis (HP:0000126); metopic craniosysnostosis (HP:0011330); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164355	Jansen et al. Patient 17	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164356	Jansen et al. Patient 18	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	facial dysmorphism (HP:0001999),; mild intellectual disability (HP:0001256); no motor delay (-HP:0001270); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164357	Jansen et al. Patient 19	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	facial dysmorphism (HP:0001999),; anxiety (HP:0000739); mild intellectual disability (HP:0001256); no motor delay (-HP:0001270); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164358	Jansen et al. Patient 20	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	hyperactivity (HP:0000752), ; facial dysmorphism (HP:0001999),; tracheomalacia (HP:0002779); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164359	Jansen et al. Patient 21	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	short stature (HP:0004322); Chiari malformation (HP:0002308); syringomyelia (HP:0003396); facial dysmorphism (HP:0001999),; cafe-au-lait spots (HP:0000957); inguinal freckling (HP:0030052); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750)	1	1	Lisenka Vissers
00164360	Jansen et al. Patient 22	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	facial dysmorphism (HP:0001999),; mild intellectual disability (HP:0001256)	1	1	Lisenka Vissers
00164361	Jansen et al. Patient 23	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	ASD (HP:0000729); borderline intellectual disability (HP:0006889)	1	1	Lisenka Vissers
00164362	Jansen et al. Patient 24	Jansen, submitted	-	M	-	-	-	-	-	-	-	ID	ASD (HP:0000729); borderline intellectual disability (HP:0006889)	1	1	Lisenka Vissers
00165141	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165142	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	F	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165143	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	?	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165144	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165145	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165146	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165147	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165148	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165149	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165150	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165151	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165152	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165153	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165154	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165155	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165156	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165157	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00165158	-	PubMed: Gregor 2018, Journal: Gregor 2018	-	-	-	-	-	-	-	-	-	ID	see paper; …	1	1	Christiane Zweier
00183654	29796876-Pat1	PubMed: Fritzen 2018, Journal: Fritzen 2018	-	M	-	Germany	-	-	-	-	-	ID	see paper; ...	1	1	Johan den Dunnen
00183655	29796876-Pat2	PubMed: Fritzen 2018, Journal: Fritzen 2018	-	M	-	Germany	-	-	-	-	-	ID	see paper; ...	1	1	Johan den Dunnen
00183688	27620904-Pat33	PubMed: Martinez 2017, Journal: Martinez 2017	-	-	-	Spain	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00222829	-	-	-	F	-	-	-	-	-	-	-	?	HP:0001263 (Global developmental delay)	1	1	IMGAG
00265425	-	-	-	M	-	-	-	-	-	-	-	?	Epicanthus (HP:0000286)	1	1	IMGAG
00295938	-	-	-	F	-	-	-	-	-	-	-	IDDFBA	Cleft palate (HP:0000175); Microcephaly (HP:0000252); Telecanthus (HP:0000506); Intellectual disability (HP:0001249); Supernumerary nipple (HP:0002558)	1	1	IMGAG
00307257	Patient 62	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00320155	-	-	-	M	-	-	-	-	-	-	-	?	Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Difficulty walking (HP:0002355); Microcephaly (HP:0000252); Strabismus (HP:0000486); Hypotelorism (HP:0000601); Long philtrum (HP:0000343); Thin upper lip vermilion (HP:0000219); Encopresis (HP:0040183); Long eyelashes (HP:0000527)	1	1	IMGAG
00362014	177941	-	-	M	?	Germany	-	-	-	-	-	IDDFBA	(+) Microcephaly,(+) Abnormality of the face,(+) Abnormality of the pinna,(+) Macrotia,(+) Abnormal eyelid morphology,(+) Muscular hypotonia,(+) Global developmental delay	1	1	Andreas Laner
00459415	-	-	-	M	-	- (not applicable)	-	-	-	-	-	NDD	HP:0001249, HP:0000750, HP:0001263, HP:0007281, HP:0004322, HP:0040080	1	1	Marketa Wayhelova
00465310	-	-	-	M	-	- (not applicable)	white	-	-	-	-	NDD	HP:0000098, HP:0001256, HP:0002342, HP:0007281, HP:0002474, HP:0007018, HP:0000736	1	1	Marketa Wayhelova
00471249	348203	-	-	M	no	Germany	-	-	-	-	-	IDDFBA	Neurodevelopmental delay, Hypotonia,	1	1	Andreas Laner

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Global Variome shared LOVD

FBXO11 (F-box protein 11)