Disease #03958 (MTDPS13 (mitochondrial DNA depletion syndrome, type 13 (MTDPS-13, encephalomyopathic type)), OMIM:615471)

Official abbreviation	MTDPS13
Name	mitochondrial DNA depletion syndrome, type 13 (MTDPS-13, encephalomyopathic type)
OMIM ID	615471
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	34
Phenotype entries for this disease	33
Associated with 1 gene	FBXL4
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
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Barbados
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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
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Martinique
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Mauritania
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Montserrat
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Morocco
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Mozambique
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Myanmar
(Myanmar)
Namibia
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Nauru
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Nepal
(Nepal)
Netherlands
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Netherlands Antilles
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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.

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Example	Matches
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34 entries on 1 page. Showing entries 1 - 34.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00080866	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MTDPS13	m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)	FBXL4	FBXL4	1	1	Daniel Trujillano
00080914	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MTDPS13	m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)	FBXL4	FBXL4	1	1	Daniel Trujillano
00080957	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MTDPS13	m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)	FBXL4	FBXL4	1	1	Daniel Trujillano
00080989	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MTDPS13	m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)	FBXL4	FBXL4	1	1	Daniel Trujillano
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,	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	1	1	Hongzheng Dai
00107962	28940506-Fam24Pat30	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	M	?	-	Hispanic	-	-	-	-	MTDPS13	see paper; ...	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	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	FBXL4	FBXL4	1	1	Hongzheng Dai
00107967	28940506-Fam31PatS37	PubMed: El-Hattab 2017, Journal: El-Hattab 2017	-	F	yes	-	Arab	-	-	-	-	MTDPS13	-	FBXL4	FBXL4	1	1	Hongzheng Dai
00110536	27743463-PatS1	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Arab	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	1	1	Johan den Dunnen
00110537	27743463-PatS2	PubMed: Dai 2017, Journal: Dai 2017	-	F	-	Canada	French Canadian	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	1	1	Johan den Dunnen
00110538	27743463-PatS3	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Arab	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	1	1	Johan den Dunnen
00110539	27743463-PatS4	PubMed: Dai 2017, Journal: Dai 2017	-	F	-	United States	-	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	2	1	Johan den Dunnen
00110540	27743463-PatS5	PubMed: Dai 2017, Journal: Dai 2017	-	F	-	United States	Hispanic	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	2	1	Johan den Dunnen
00110541	27743463-PatS6	PubMed: Dai 2017, Journal: Dai 2017	-	F	-	United States	white	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	2	1	Johan den Dunnen
00110542	27743463-PatS7	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Arab	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	1	1	Johan den Dunnen
00110543	27743463-PatS8	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Arab	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	1	1	Johan den Dunnen
00110544	27743463-PatS9	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	Hispanic	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	2	1	Johan den Dunnen
00110545	27743463-PatS10	PubMed: Dai 2017, Journal: Dai 2017	-	M	-	United States	white	-	-	-	-	MTDPS13	see paper; …	FBXL4	FBXL4	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

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