All individuals with variants in gene FBXL4

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.

69 entries on 1 page. Showing entries 1 - 69.

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
00080866	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MTDPS13	m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)	1	1	Daniel Trujillano
00080914	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MTDPS13	m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)	1	1	Daniel Trujillano
00080957	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MTDPS13	m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)	1	1	Daniel Trujillano
00080989	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MTDPS13	m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)	1	1	Daniel Trujillano
00103904	28327206-PatBH6041_1	PubMed: Eldomery 2017, Journal: Eldomery 2017	-	-	-	United States	-	-	-	-	-	?	mitochondrial disorder: developmental delay, hypotonia, muscle weakness, autistic features, RTA, lactic acidosis	1	1	Johan den Dunnen
00107940	28940506-Fam1PatS1	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	2-generation family, 2 affecteds (2F), unaffected parents	F	-	-	Arab	-	-	-	-	MTDPS13	short stature,developmental delay, hypotonia, feeding difficulties, inguinal/umbilical hernia,lactic acidemia, hyperammonemia,	1	2	Hongzheng Dai
00107941	28940506-Fam2PatS3	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	yes	-	Arab	-	-	-	-	MTDPS13	IUGR,SGA,FTT, short stature, DD,hypotonia,feeding difficulties, lactic acidemia, hyperammonemia, dysmorphic	1	1	Hongzheng Dai
00107943	28940506-Fam3PatS4	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	-	-	Arab	-	-	-	-	MTDPS13	FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Ataxia, White matter abnormalities, Cerebral atrophy, Peri/paraventricualr cysts, Thin corpus callosum, Cerebellar hypoplasia, Brain stem atrophy, Feeding difficulties, Lactic acidemia, Hyperammonemia , Depressed nasal bridge, Small feet	1	1	Hongzheng Dai
00107944	28940506-Fam4PatS5	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	yes	-	Arab	-	-	-	-	MTDPS13	SGA, FTT , Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Nystagmus, Optic atrophy, Feeding difficulties, Liver dysfunction, Recurrent infections, Lactic acidemia, Hyperammonemia , Smooth philtrum, Short palpebral fissures, Epicanthus, Depressed nasal bridge, Narrow forehead, Small feet, Long eyelashes, Small hands	1	1	Hongzheng Dai
00107952	28940506-Fam5PatS6	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	yes	-	Arab	-	-	-	-	MTDPS13	Developmental delay, Hypotonia, Seizure, Movement disorder, White matter abnormalities, Cerebral atrophy, Basal ganglia abnormalities , Thin corpus callosum, Cerebellar hypoplasia, Arachnoid cyst, Brain stem atrophy, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, Nystagmus, Strabismus, Optic atrophy, Feeding difficulties, Inguinal / umbilical hernia, Undescended testis, Recurrent infections, Lactic acidemia, Hyperammonemia , Broad nasal bridge, Low set ears, Synophrys, Epicanthus, Long philtrum, Depressed nasal bridge, Narrow forehead, Long eyelashes	1	1	Hongzheng Dai
00107953	28940506-Fam6PatS7	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	yes	-	Arab	-	-	-	-	MTDPS13	FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia	1	1	Hongzheng Dai
00107954	28940506-Fam7PatS8	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	yes	-	Arab	-	-	-	-	MTDPS13	FTT , Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Basal ganglia abnormalities , Thin corpus callosum, Hypospadias, FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia	1	1	Hongzheng Dai
00107955	28940506-Fam8PatS9	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	yes	-	Arab	-	-	-	-	MTDPS13	FTT , Microcephaly, Developmental delay, Hypotonia, Seizure, White matter abnormalities, Cerebral atrophy, Arachnoid cyst, Cardiomyopathy, Congenital heart disease, Pulmonary hypertension, Nystagmus, , Feeding difficulties, Hypospadias, Undescended testis, Lactic acidemia, Hyperammonemia, FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia	1	1	Hongzheng Dai
00107956	28940506-Fam9PatS10	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	yes	-	Arab	-	-	-	-	MTDPS13	FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Arrhythmia, Feeding difficulties, Lactic acidemia	1	1	Hongzheng Dai
00107957	28940506-Fam10PatS11	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	yes	-	Arab	-	-	-	-	MTDPS13	Microcephaly, Developmental delay, Hypotonia, Nystagmus, Strabismus	1	1	Hongzheng Dai
00107958	28940506-Fam20PatS26	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	no	-	Arab	-	-	-	-	MTDPS13	SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Stroke-like episodes, White matter abnormalities, Cerebral atrophy, Lactate peak in MRS, Strabismus, Optic atrophy, Feeding difficulties, Recurrent infections, Neutropenia, Lactic acidemia, Thick eyebrows, Synophrys, Ptosis	2	1	Hongzheng Dai
00107959	28940506-Fam21PatS27	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	yes	-	Arab	-	-	-	-	MTDPS13	SGA, FTT , Short stature, Developmental delay, Hypotonia, White matter abnormalities, Hydrocephalus/ dilated ventricles, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, Nystagmus, Strabismus, Optic atrophy, Feeding difficulties, Recurrent infections, Lactic acidemia, Hyperammonemia , Broad nasal bridge, Low set ears, Short palpebral fissures, Epicanthus, Long philtrum, Prominent forehead, Depressed nasal bridge, High arched palate, Protruding ears, Small feet, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Almond shaped eyes, Broad forehead, Small hands, Brachycephaly, Syndactyly	1	1	Hongzheng Dai
00107960	28940506-Fam22PatS28	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	no	-	Hispanic/white	-	-	-	-	MTDPS13	SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Lactate peak in MRS, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia , Synophrys, Prominent forehead, Depressed nasal bridge, Upslanted palpebral fissure	2	1	Hongzheng Dai
00107961	28940506-Fam23PatS29	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	no	India	Indian	-	-	-	-	MTDPS13	SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Lactate peak in MRS, Cardiomyopathy, , Feeding difficulties, Lactic acidemia, Prominent forehead	1	1	Hongzheng Dai
00107962	28940506-Fam24Pat30	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	?	-	Hispanic	-	-	-	-	MTDPS13	see paper; ...	1	1	Hongzheng Dai
00107963	28940506-Fam25PatS31	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	no	United States	white	-	-	-	-	MTDPS13	White matter abnormalities, Peri/paraventricualr cysts, Thin corpus callosum, Cerebellar hypoplasia, Hydrocephalus/ dilated ventricles, Strabismus, Feeding difficulties, Lactic acidemia, Hyperammonemia , Epicanthus, Long philtrum, Prominent forehead, Depressed nasal bridge, Plagiocephaly, Small feet, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Broad forehead, Small hands	2	1	Hongzheng Dai
00107964	28940506-Fam26PatS32	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	no	United States	white	-	-	-	-	MTDPS13	White matter abnormalities, Cerebral atrophy, Hydrocephalus/ dilated ventricles, Brain stem atrophy, Enlarged cisterna magna, Feeding difficulties, Liver dysfunction, Undescended testis, Recurrent infections, Lactic acidemia, Hyperammonemia	1	1	Hongzheng Dai
00107965	28940506-Fam27PatS33	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	no	United States	white	-	-	-	-	MTDPS13	White matter abnormalities, Cerebral atrophy, Cerebellar hypoplasia, Hydrocephalus/ dilated ventricles, Feeding difficulties, Undescended testis, Recurrent infections, Lactic acidemia, Broad nasal bridge, Low set ears, Prominent forehead, Hypertelorism, Depressed nasal bridge, High arched palate, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Broad forehead	2	1	Hongzheng Dai
00107966	28940506-Fam28PatS35	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	no	-	Arab	-	-	-	-	MTDPS13	White matter abnormalities, Cerebral atrophy, Peri/paraventricualr cysts, Hydrocephalus/ dilated ventricles, Brain stem atrophy, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, , Feeding difficulties, Lactic acidemia, Hyperammonemia	1	1	Hongzheng Dai
00107967	28940506-Fam31PatS37	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	yes	-	Arab	-	-	-	-	MTDPS13	-	1	1	Hongzheng Dai
00110536	27743463-PatS1	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Arab	-	-	-	-	MTDPS13	see paper; …	1	1	Johan den Dunnen
00110537	27743463-PatS2	PubMed: Dai 2017, Journal: Dai 2017	-	F	-	Canada	French Canadian	-	-	-	-	MTDPS13	see paper; …	1	1	Johan den Dunnen
00110538	27743463-PatS3	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Arab	-	-	-	-	MTDPS13	see paper; …	1	1	Johan den Dunnen
00110539	27743463-PatS4	PubMed: Dai 2017, Journal: Dai 2017	-	F	-	United States	-	-	-	-	-	MTDPS13	see paper; …	2	1	Johan den Dunnen
00110540	27743463-PatS5	PubMed: Dai 2017, Journal: Dai 2017	-	F	-	United States	Hispanic	-	-	-	-	MTDPS13	see paper; …	2	1	Johan den Dunnen
00110541	27743463-PatS6	PubMed: Dai 2017, Journal: Dai 2017	-	F	-	United States	white	-	-	-	-	MTDPS13	see paper; …	2	1	Johan den Dunnen
00110542	27743463-PatS7	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Arab	-	-	-	-	MTDPS13	see paper; …	1	1	Johan den Dunnen
00110543	27743463-PatS8	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Arab	-	-	-	-	MTDPS13	see paper; …	1	1	Johan den Dunnen
00110544	27743463-PatS9	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Hispanic	-	-	-	-	MTDPS13	see paper; …	2	1	Johan den Dunnen
00110545	27743463-PatS10	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	white	-	-	-	-	MTDPS13	see paper; …	2	1	Johan den Dunnen
00147089	{PMID:Gai 2013:23993194}	23993194-Fam1	4-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Saudi Arabia	Arab	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147090	{PMID:Gai 2013:23993194}	23993194-Fam2	4-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents	M	yes	Saudi Arabia	Arab	-	-	-	-	MTDPS	see paper; …	1	3	Johan den Dunnen
00147091	{PMID:Gai 2013:23993194}	23993194-Fam3	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	Europe	-	-	-	-	MTDPS	see paper; …	2	1	Johan den Dunnen
00147092	{PMID:Gai 2013:23993194}	23993194-Fam4	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Albania	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147093	{PMID:Gai 2013:23993194}	23993194-Fam5	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Bahrain	Arab	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147094	{PMID:Gai 2013:23993194}	23993194-Fam6	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Germany	-	-	-	-	-	MTDPS	see paper; …	2	1	Johan den Dunnen
00147095	{PMID:Gai 2013:23993194}	23993194-Fam7	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Turkey	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147096	{PMID:Bonnen 2013:23993193}	23993193-Fam1	4-generation family, 5 affecteds (F, 4M), unaffected heterozygous carrier parents	F;M	yes	-	Arab	-	-	-	-	MTDPS	see paper; …	1	5	Johan den Dunnen
00147097	{PMID:Bonnen 2013:23993193}	23993193-Fam2	4-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents	F;M	yes	-	Arab	-	-	-	-	MTDPS	see paper; …	1	5	Johan den Dunnen
00147098	{PMID:Bonnen 2013:23993193}	23993193-Fam3	3-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	-	Arab	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147099	{PMID:Huemer 2015:25868664}	25868664-Pat1	-	F	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147100	{PMID:Huemer 2015:25868664}	25868664-Pat2	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147101	{PMID:Huemer 2015:25868664}	25868664-Pat5	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147102	{PMID:Huemer 2015:25868664}	25868664-Pat10	-	F	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147103	{PMID:Huemer 2015:25868664}	25868664-Pat13	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147104	{PMID:Huemer 2015:25868664}	25868664-Pat16	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	2	1	Johan den Dunnen
00147105	{PMID:Huemer 2015:25868664}	25868664-Pat21	-	F	-	-	-	-	-	-	-	MTDPS	see paper; …	2	1	Johan den Dunnen
00147106	{PMID:Huemer 2015:25868664}	25868664-Pat17	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	2	1	Johan den Dunnen
00147107	{PMID:Huemer 2015:25868664}	25868664-Pat20	-	F	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147108	{PMID:Huemer 2015:25868664}	25868664-Pat3	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147109	{PMID:Huemer 2015:25868664}	25868664-Pat19	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147110	{PMID:Huemer 2015:25868664}	25868664-Pat14	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	2	1	Johan den Dunnen
00147111	{PMID:Huemer 2015:25868664}	25868664-Pat6	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147112	{PMID:Huemer 2015:25868664}	25868664-Pat18	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147113	{PMID:Huemer 2015:25868664}	25868664-Pat15	-	F	-	-	-	-	-	-	-	MTDPS	see paper; …	2	1	Johan den Dunnen
00147114	{PMID:Huemer 2015:25868664}	25868664-Pat11	-	M	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147115	{PMID:Huemer 2015:25868664}	25868664-Pat8	-	F	-	-	-	-	-	-	-	MTDPS	see paper; …	1	1	Johan den Dunnen
00147116	{PMID:van Rij 2016:27099744}	27099744-Pat1	-	F	-	Netherlands	-	-	-	-	-	MTDPS	see paper; …	2	1	Johan den Dunnen
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
00274141	Pat3	PubMed: Pronicka 2016	miscarriage	M	-	Poland	-	-	-	-	-	?	neonatal onset; mitochondrial disease criteria score 5; muscle biopsy	2	1	Johan den Dunnen
00274180	Pat52	PubMed: Pronicka 2016	empty ovum	F	-	Poland	-	-	-	-	-	?	neonatal onset; mitochondrial disease criteria score 5	2	1	Johan den Dunnen
00274183	Pat55	PubMed: Pronicka 2016	-	F	-	Poland	-	-	-	-	-	?	mitochondrial disease criteria score 4; muscle biopsy	1	1	Johan den Dunnen
00361567	11DG0298	PubMed: Anazi 2017	familial	M	yes	Saudi Arabia	-	-	-	-	-	ID	not syndromic; global developmental delay, mitochondrial encephalomyopathy	1	1	Johan den Dunnen
00454703	NGSP70	PubMed: Legati 2016	-	M	-	-	-	-	-	-	-	mitochondrial	pshycomotor delay, respiratory distress, epilepsy, leukoencephalopathy	2	1	Daniele Ghezzi

Legend

How to query

Global Variome shared LOVD

FBXL4 (F-box and leucine-rich repeat protein 4)