All individuals with variants in gene HADHA

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.

201 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00000013	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000033	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000044	-	PubMed: Bell 2011	Coriell sample	-	-	-	-	-	-	-	-	GA1	-	1	1	Global Variome, with Curator vacancy
00000100	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00019870	-	PubMed: Gilissen 2014	-	?	?	-	-	-	-	-	-	ID	feeding problems, epilepsy, IQ 50, small dysplastic low-set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand	1	1	Marianne Vos (LOVD-team)
00181030	-	-	-	-	-	-	-	-	-	-	-	LCHADD	-	2	1	Belen Perez
00292674	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292675	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00333998	494	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB	2	1	LOVD
00362264	-	-	-	M	-	Germany	-	-	-	-	-	MTPD	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00395566	RP-0420	PubMed: Perea-Romero 2021	-	-	-	Spain	-	-	-	-	-	retinal disease	myopia, photophobia, rod-cone dystrophy, long-chain dicarboxylic aciduria, long chain 3 hydroxyacyl coa dehydrogenase deficiency	1	1	LOVD
00400216	FamCMT2-101PatII1	PubMed: Khani 2020	2-generation family, 2 affected (sister/brother), 3 unaffected heterozygous carrier parents/relatives	F	yes	Iran	-	>29y	-	-	-	CMT2	Distal muscle weakness (HP:0002460), Distal lower limb amyotrophy (HP:0008944), Pes cavus (HP:0001761), Hammertoe (HP:0001765), Impaired vibratory sensation (HP:0002495), Reduced tendon reflexes (HP:0001315), No abnormal cranial nerve morphology (-HP:0001291), Difficulty running (HP:0009046), Difficulty walking (HP:0002355), Exercise intolerance (HP:0003546), Gait imbalance (HP:0002141), No abnormality of higher mental function (-HP:0011446), Motor axonal neuropathy (HP:0007002), No decreased nerve conduction velocity (-HP:0000762), EMG: neuropathic changes (HP:0003445), No abnormal brainstem MRI signal intensity (HP:0012747)	1	2	Yvet den Hartog
00400217	FamCMT2-101PatII3	PubMed: Khani 2020	brother	M	yes	Iran	-	>24y	-	-	-	CMT2	Distal muscle weakness (HP:0002460), Distal lower limb amyotrophy (HP:0008944), Pes cavus (HP:0001761), Hammertoe (HP:0001765), Impaired vibratory sensation (HP:0002495), Reduced tendon reflexes (HP:0001315), No abnormal cranial nerve morphology (-HP:0001291), Difficulty running (HP:0009046), Difficulty walking (HP:0002355), Exercise intolerance (HP:0003546), Gait imbalance (HP:0002141), No abnormality of higher mental function (-HP:0011446), Motor axonal neuropathy (HP:0007002), Decreased nerve conduction velocity (HP:0000762), EMG: neuropathic changes (HP:0003445), No abnormal brainstem MRI signal intensity (-HP:0012747)	1	1	Yvet den Hartog
00446811	Pat98	PubMed: Miszalski-Jamka 2017	case solved	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen
00447209	MISC-305	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00452097	control	PubMed: Randon 2020	analysis 1000 healthy individuals	F	-	Brazil	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00453620	Pat36	PubMed: Navarrete 2019	newborn screening	-	-	Spain	-	-	-	-	-	metabolic syndrome	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	2	1	Johan den Dunnen
00457467	Pat1	PubMed: IJlst 1994	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Netherlands	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457468	Pat2	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457469	Pat3	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457470	Pat4	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457471	Pat5	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457472	Pat6	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457473	Pat7	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457474	Pat8	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457475	Pat9	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457476	Pat10	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457477	Pat11	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457478	Pat12	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457479	Pat13	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457480	Pat14	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457481	Pat15	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457482	Pat16	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457483	Pat17	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457484	Pat18	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457485	Pat19	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457486	Pat20	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457487	Pat21	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457488	Pat22	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457489	Pat23	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457490	Pat24	PubMed: IJlst 1994	-	-	-	-	-	-	-	-	-	MTPD	-	1	1	Johan den Dunnen
00457491	PatA;Pat10	PubMed: Ibdah 1998, PubMed: Spiekerkoetter 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	MTPD	see paper; ...	1	1	Johan den Dunnen
00457492	PatB;Pat9	PubMed: Ibdah 1998, PubMed: Spiekerkoetter 2004	-	-	-	United States	-	-	-	-	-	MTPD	see paper; ...	2	1	Johan den Dunnen
00457493	Pat1	PubMed: IJlst 1997	-	-	-	-	-	-	-	-	-	MTPD	see paper; ...	2	1	Johan den Dunnen
00457494	Pat2	PubMed: IJlst 1997	-	-	-	-	-	-	-	-	-	MTPD	see paper; ...	2	1	Johan den Dunnen
00457495	patient;Pat2	PubMed: Brackett 1995, PubMed: Ushikubo 1996	-	-	-	United States	-	-	-	-	-	MTPD	see paper; ...	2	1	Johan den Dunnen
00457496	patient	PubMed: Liewluck 2013	-	M	-	United States	-	-	-	-	-	MTPD	see paper; ..., recurrent rhabdomyolysis; normal developmental milestones, athletic, worked as railroad conductor; ankle reflexes markedly diminished	2	1	Johan den Dunnen
00457497	patient;Pat11;Pat14	PubMed: Isaacs 1996, PubMed: Spiekerkoetter 2004, PubMed: Gillingham 2005	2-generation family, 1 affected, unaffected heterozygous carrier father, carrier mother acute fatty liver of pregnancy	M	-	United States	-	-	-	-	-	MTPD	see paper; ..., 35w-delivered by emergent cesarean section for fetal distress, required brief respiratory support; 4m-viral upper respiratory infection with vomiting, irritability, decreased oral intake, rapidly lethargic, developed coma with hypoglycemia/metabolic acidosis	2	1	Johan den Dunnen
00457498	FamPatII2	PubMed: Yang 2022	2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives	F	-	China	-	03y	-	-	-	MTPD	see paper; ..., 3y-deceased (fever half a day; sleepiness, diminished speech, progressive disturbance of consciousness for 1 day; respiratory weakness for 30 min); 39w+2-birth, weight 3,990 g; weakness in both lower limbs, poor swallowing function	2	2	Johan den Dunnen
00457499	FamPatII3	PubMed: Yang 2022	brother	M	-	China	-	00y07m	-	-	-	MTPD	see paper; ..., 7m-deceased (sudden death fever,diarrhea); 38w+3-birth,weight 3,070 g; autopsy upper respiratory tract infection, liver/cardiac cell fat modification	2	1	Johan den Dunnen
00457500	FamAPatII1	PubMed: Sims 1995	2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy)	-	-	United States	-	-	-	-	-	MTPD	see paper; ...	1	1	Johan den Dunnen
00457501	FamCPatII1	PubMed: Sims 1995	2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy)	-	-	United States	-	-	-	-	-	MTPD	see paper; ...	1	1	Johan den Dunnen
00457502	FamBPatII1	PubMed: Sims 1995	2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy)	-	-	United States	-	-	-	-	-	MTPD	see paper; ...	2	1	Johan den Dunnen
00457503	patient	PubMed: Zhang 2023, PubMed: Chen 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	China	-	-	-	-	-	MTPD	see paper; ..., diarrhea, irritability, anorexia, poor reactions	2	1	Johan den Dunnen
00457505	Pat1	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	late-onset neuromyopathic form; alive	2	1	Johan den Dunnen
00457506	Pat2	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	severe neonatal form; abnormalities third trimester pregnancy ; died	1	1	Johan den Dunnen
00457507	Pat3	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457508	Pat4	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	2	1	Johan den Dunnen
00457509	Pat5	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	severe neonatal form; abnormalities third trimester pregnancy ; died	2	1	Johan den Dunnen
00457510	Pat6	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457511	Pat7	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	late-onset neuromyopathic form; alive	1	1	Johan den Dunnen
00457512	Pat8	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	late-onset neuromyopathic form; died	1	1	Johan den Dunnen
00457513	Pat9	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	late-onset neuromyopathic form; alive	1	1	Johan den Dunnen
00457514	Pat10	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	late-onset neuromyopathic form; alive	2	1	Johan den Dunnen
00457515	Pat11	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457516	Pat12	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	2	1	Johan den Dunnen
00457517	Pat13	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457518	Pat14	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457519	Pat15	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457520	Pat16	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457521	Pat17	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457522	Pat18	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	1	1	Johan den Dunnen
00457523	Pat19	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	1	1	Johan den Dunnen
00457524	Pat20	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	1	1	Johan den Dunnen
00457525	Pat21	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	1	1	Johan den Dunnen
00457526	Pat22	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	1	1	Johan den Dunnen
00457527	Pat23	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	1	1	Johan den Dunnen
00457528	Pat24	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	1	1	Johan den Dunnen
00457529	Pat25	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	1	1	Johan den Dunnen
00457530	Pat26	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457531	Pat27	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457532	Pat28	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457533	Pat29	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457534	Pat30	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457535	Pat31	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457536	Pat32	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457537	Pat33	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457538	Pat34	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457539	Pat35	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457540	Pat36	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	1	1	Johan den Dunnen
00457541	Pat37	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	severe neonatal form; died	2	1	Johan den Dunnen
00457542	Pat38	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	2	1	Johan den Dunnen
00457543	Pat39	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	severe neonatal form; died	1	1	Johan den Dunnen
00457544	Pat40	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; abnormalities third trimester pregnancy ; alive	2	1	Johan den Dunnen
00457545	Pat41	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	severe neonatal form; died	2	1	Johan den Dunnen
00457546	Pat42	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; died	2	1	Johan den Dunnen
00457547	Pat43	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	severe neonatal form; abnormalities third trimester pregnancy ; died	1	1	Johan den Dunnen
00457548	Pat44	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457549	Pat45	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	infantile hepatic form; alive	2	1	Johan den Dunnen
00457550	Pat46	PubMed: Boutron 2011	-	-	-	France	-	-	-	-	-	MTPD	severe neonatal form; died	1	1	Johan den Dunnen

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Global Variome shared LOVD

HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA...)