All individuals with variants in gene MLYCD

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.

46 entries on 1 page. Showing entries 1 - 46.

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
00183402	Patient XIV	PubMed: Giugliano 2018	-	M	?	-	-	-	-	-	-	MYOP	onset juvenile, shoulder and pelvic girdle weakness, severe proximal muscle weakness, wheelchair bound, elevated CPK (3x), EMG myopathic, biopsy dystrophic features, mild respiratory insufficiency	1	1	Teresa Giugliano
00275628	FamMR61Pat1	PubMed: Santos-Cortez 2018	4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	ID	OFC 51cm; IQ 45, moderate intellectual disability (HP:0002342)	1	2	Johan den Dunnen
00275629	FamMR61Pat2	PubMed: Santos-Cortez 2018	-	M	yes	Pakistan	-	-	-	-	-	ID	OFC 54cm; IQ 50, moderate intellectual disability (HP:0002342); aggressive behavior	1	1	Johan den Dunnen
00291557	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	187	Mohammed Faruq
00291558	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291559	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	139	Mohammed Faruq
00304539	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00304540	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00309853	M009	PubMed: Roman 2020, Journal: Roman 2020	new-born screening	-	-	United States	-	-	-	-	-	MLYCDD	see paper; ...	1	1	Johan den Dunnen
00315504	SUDS112	PubMed: Neubauer 2021	-	F	-	Switzerland	Europe	33y	-	-	-	SUD	SUD	1	1	Cordula Haas
00362697	Pat1	PubMed: MacPhee 1993, PubMed: FitzPatrick 1999	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Scotland	-	-	-	-	-	MLYCDD	see paper; ..., delayed neurological development, seizures, no short stature, no acidosis, no hypoglycemia, no cardiomyopathy	1	1	Johan den Dunnen
00362698	Pat2	PubMed: MacPhee 1993, PubMed: FitzPatrick 1999	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Scotland	-	-	-	-	-	MLYCDD	see paper; ..., delayed neurological development, seizures, no short stature, no acidosis, hypoglycemia, no cardiomyopathy	1	1	Johan den Dunnen
00362699	patient	PubMed: Gao 1999	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	United States	-	-	-	-	-	MLYCDD	see paper; ...	1	1	Johan den Dunnen
00362700	MA002	PubMed: Sacksteder 1999	-	-	no	-	-	-	-	-	-	MLYCDD	-	1	1	Johan den Dunnen
00362701	San1/2	PubMed: Wightman 2003	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	no	Germany	-	-	-	-	-	MLYCDD	see paper; ..., cardiomyopathy (2/2), acidosis (HACMA), hypglycaemia (HACMA)	2	2	Johan den Dunnen
00362702	San3	PubMed: Wightman 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	-	MLYCDD	see paper; ..., developmental delay, acidosis	1	1	Johan den Dunnen
00362703	Rib1	PubMed: Wightman 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Spain	-	-	-	-	-	MLYCDD	see paper; ..., developmental delay, seizures	1	1	Johan den Dunnen
00362704	Dou1	PubMed: Wightman 2003	-	M	-	-	-	-	-	-	-	MLYCDD	see paper; ..., acidosis	1	1	Johan den Dunnen
00362705	Haa1	PubMed: Wightman 2003	-	M	-	Australia	-	-	-	-	-	MLYCDD	see paper; ..., developmental delay, acidosis, hypoglycaemia	1	1	Johan den Dunnen
00362706	Mat1	PubMed: Matalon 1993, PubMed: Wightman 2003	-	M	-	United States	-	-	-	-	-	MLYCDD	see paper; ..., developmental delay, seizures, cardiomyopathy	1	1	Johan den Dunnen
00362707	Bro1	PubMed: Brown 1984, PubMed: Wightman 2003	-	M	-	Australia	-	-	-	-	-	MLYCDD	see paper; ..., developmental delay, short stature, acidosis,	1	1	Johan den Dunnen
00362708	Yan1	PubMed: Yano 1997, PubMed: Wightman 2003	-	M	-	United States	-	-	-	-	-	MLYCDD	see paper; ..., developmental delay, seizures, acidosis, hypoglycaemia, cardiomyopathy	1	1	Johan den Dunnen
00362709	Kra1	PubMed: Wightman 2003	-	M	-	-	-	-	-	-	-	MLYCDD	see paper; ...	1	1	Johan den Dunnen
00362710	patient	PubMed: Surendran 2001	-	-	-	United States	-	-	-	-	-	MLYCDD	mild	1	1	Johan den Dunnen
00362711	patient	PubMed: Malvagia 2007	-	M	no	Italy	-	-	-	-	-	MLYCDD	see paper; ..., 4m15-died suddenly	2	1	Johan den Dunnen
00362712	patient	PubMed: Footitt 2010	-	F	yes	United Kingdom (Great Britain)	Asia	-	-	-	-	MLYCDD	see paper; ...	1	1	Johan den Dunnen
00362713	Pat1	PubMed: Chapel-Crespo 2019	-	M	-	-	white	-	-	-	-	MLYCDD	see paper; ..., respiratory distress, metabolic acidosis, hypoglycemia, hypotonia, seizures	1	1	Johan den Dunnen
00362714	Pat2	PubMed: Chapel-Crespo 2019	-	M	-	Mexico	-	-	-	-	-	MLYCDD	see paper; ...,	1	1	Johan den Dunnen
00362715	Pat3	PubMed: Chapel-Crespo 2019	-	F	-	Mexico	-	-	-	-	-	MLYCDD	see paper; ..., respiratory distress, hypotonia	1	1	Johan den Dunnen
00362716	Pat4	PubMed: Chapel-Crespo 2019	-	M	-	-	white	-	-	-	-	MLYCDD	see paper; ...,	2	1	Johan den Dunnen
00362717	Pat5	PubMed: Chapel-Crespo 2019	family, 2 affected	M	-	Mexico	-	-	-	-	-	MLYCDD	see paper; ..., respiratory distress, hypotonia, metabolic acidosis	1	2	Johan den Dunnen
00362718	Pat6	PubMed: Chapel-Crespo 2019	-	M	-	United States	white;native American;Mexico	-	-	-	-	MLYCDD	see paper; ..., hypoglycemia, metabolic acidosis	1	1	Johan den Dunnen
00362719	Pat7	PubMed: Chapel-Crespo 2019	-	M	-	Nigeria	-	-	-	-	-	MLYCDD	see paper; ...,	2	1	Johan den Dunnen
00362720	Pat8	PubMed: Chapel-Crespo 2019	-	F	yes	-	Middle Eastern	-	-	-	-	MLYCDD	see paper; ...,	1	1	Johan den Dunnen
00362721	Pat9	PubMed: Chapel-Crespo 2019	sib	M	-	Mexico	-	-	-	-	-	MLYCDD	see paper; ...,	1	1	Johan den Dunnen
00362722	Pat1	PubMed: Salomons 2007	-	M	-	-	-	-	-	-	-	MLYCDD	see paper; ...,	2	1	Johan den Dunnen
00362723	Pat2	PubMed: Salomons 2007	family, 2 affected	M	-	-	-	-	-	-	-	MLYCDD	see paper; ...,	1	2	Johan den Dunnen
00362724	Pat3	PubMed: Salomons 2007	sib	M	-	-	-	-	-	-	-	MLYCDD	see paper; ...,	1	1	Johan den Dunnen
00362725	Pat4	PubMed: Salomons 2007	-	F	yes	-	-	-	-	-	-	MLYCDD	see paper; ...,	1	1	Johan den Dunnen
00362726	Pat5	PubMed: Salomons 2007	-	M	-	-	-	-	-	-	-	MLYCDD	see paper; ...,	1	1	Johan den Dunnen
00362727	Pat6	PubMed: Salomons 2007	-	M	-	-	-	-	-	-	-	MLYCDD	see paper; ...,	2	1	Johan den Dunnen
00362728	Pat7	PubMed: Salomons 2007	-	F	yes	-	-	-	-	-	-	MLYCDD	see paper; ...,	1	1	Johan den Dunnen
00362729	Pat8	PubMed: Salomons 2007	-	F	-	-	-	-	-	-	-	MLYCDD	see paper; ...,	2	1	Johan den Dunnen
00362730	Pat9	PubMed: Salomons 2007	-	-	-	-	-	-	-	-	-	MLYCDD	see paper; ...,	1	1	Johan den Dunnen
00390482	-	Snanoudj et al., submitted (2021)	-	M	yes	Morocco	-	-	-	-	-	MLYCDD	-	1	1	Sarah Snanoudj
00452262	-	PubMed: Wang 2019	screening 401,660 newborns for inborn errors of metabolism	-	-	China	-	-	-	-	-	?	-	1	2	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

MLYCD (malonyl-CoA decarboxylase)