All individuals with variants in gene ZMPSTE24

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.

92 entries on 1 page. Showing entries 1 - 92.

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
00146465	19680556.c	PubMed: Halaschek-Wiener 2009	-	-	-	Canada	-	>85y	-	-	-	Healthy/Control	-	15	94	Johan den Dunnen
00146466	19645629-Pats	PubMed: Gaudy-Marqueste 2009	27 patients	-	-	France	-	-	-	-	-	?	scleroderma	1	1	Johan den Dunnen
00146467	19645629-Pats	PubMed: Gaudy-Marqueste 2009	27 patients	-	-	France	-	-	-	-	-	?	scleroderma	1	2	Johan den Dunnen
00146468	19645629-cons	PubMed: Gaudy-Marqueste 2009	100 control individuals	-	-	-	European	-	-	-	-	Healthy/Control	-	1	20	Johan den Dunnen
00146469	P3	PubMed: Navarro 2004, PubMed: Navarro 2005	-	?	no	France	-	-	-	-	-	MAD	-	2	1	Johan den Dunnen
00146470	P5 /P6	PubMed: Navarro 2004, PubMed: Navarro 2005	2 affecteds	?	no	Netherlands	-	-	-	-	-	MAD	-	2	2	Johan den Dunnen
00146471	P7	PubMed: Navarro 2004, PubMed: Navarro 2005	-	?	no	Netherlands	-	-	-	-	-	MAD	-	2	1	Johan den Dunnen
00146472	P9	PubMed: Navarro 2004, PubMed: Navarro 2005	-	?	no	Netherlands	-	-	-	-	-	MAD	-	2	1	Johan den Dunnen
00146473	P8	PubMed: Navarro 2004, PubMed: Navarro 2005	-	?	no	France	-	-	-	-	-	MAD	-	2	1	Johan den Dunnen
00146474	P11	PubMed: Navarro 2005	-	?	no	Netherlands	-	-	-	-	-	MAD	-	2	1	Johan den Dunnen
00146475	Pat1	PubMed: Denecke 2006	-	M	yes	Turkey	-	-	-	-	-	HGPS	-	1	1	Johan den Dunnen
00146476	MAD600	PubMed: Schrander-Stumpel 1992	-	F	-	Belgium	-	27y	-	-	-	MAD	type B lipodystrophy, progeroid appearance, died of complications chronic renal failure, biopsy focal segmental glomerulosclerosis (collapsing variant)	2	1	Johan den Dunnen
00146477	P4	PubMed: Navarro 2004, PubMed: Navarro 2005	-	?	-	Netherlands	-	-	-	-	-	RD	-	2	1	Johan den Dunnen
00146478	P10	PubMed: Navarro 2005	-	?	-	Netherlands	-	-	-	-	-	RD	-	2	1	Johan den Dunnen
00146479	P12	PubMed: Navarro 2005	-	?	-	Italy	-	-	-	-	-	RD	-	2	1	Johan den Dunnen
00146480	16297189.D	PubMed: Moulson 2006	archived DNA (paraffin-embedded)	?	-	Netherlands	-	-	-	-	-	RD	-	2	1	Johan den Dunnen
00146481	?	PubMed: Shackleton 2005	-	F	no	(United Kingdom (Great Britain))	-	>2y	-	-	-	?	features of HGPS, MAD, RD	2	1	Johan den Dunnen
00146482	?	PubMed: Agarwal 2006	-	M	-	Australia	-	37y	-	-	-	MAD	end-stage renal disease, died despite cadaveric renal transplantation, biopsy focal segmental glomerulosclerosis	2	1	Johan den Dunnen
00146483	18671782.1	PubMed: Sander 2008	related to 18671782.2, grandparents second-degree cousins	M	yes	United Arab Emirates	-	45d	-	-	-	RD	-	2	1	Johan den Dunnen
00146484	18671782.2	PubMed: Sander 2008	related to 18671782.1, grandparents second-degree cousins	?	yes	United Arab Emirates	-	56d	-	-	-	RD	-	2	1	Johan den Dunnen
00146485	14123par	PubMed: Yesil 2011, Yesil ESHG2009 P02.100	2-generation family, unaffected first-cousin carrier parents	M	yes	Turkey	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00146486	19504603-Patp	PubMed: Chen 2009	4-generation family, unaffected (grand)parents	-	?	Taiwan	Taiwan, Atayal	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00146487	19645629-Pats	PubMed: Gaudy-Marqueste 2009	27 patients	-	-	France	-	-	-	-	-	?	scleroderma	1	2	Johan den Dunnen
00146488	19645629-Pats	PubMed: Gaudy-Marqueste 2009	27 patients	-	-	France	-	-	-	-	-	?	scleroderma	1	2	Johan den Dunnen
00146489	19645629-Pats	PubMed: Gaudy-Marqueste 2009	27 patients	-	-	France	-	-	-	-	-	?	scleroderma	1	3	Johan den Dunnen
00146490	19645629-Pats	PubMed: Gaudy-Marqueste 2009	27 patients	-	-	France	-	-	-	-	-	?	scleroderma	1	5	Johan den Dunnen
00146491	19645629-cons	PubMed: Gaudy-Marqueste 2009	100 control individuals	-	-	-	European	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00146492	19645629-cons	PubMed: Gaudy-Marqueste 2009	100 control individuals	-	-	-	European	-	-	-	-	Healthy/Control	-	1	14	Johan den Dunnen
00146493	19645629-cons	PubMed: Gaudy-Marqueste 2009	100 control individuals	-	-	-	European	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00146494	19645629-cons	PubMed: Gaudy-Marqueste 2009	100 control individuals	-	-	-	European	-	-	-	-	Healthy/Control	-	1	22	Johan den Dunnen
00146495	19645629-cons	PubMed: Gaudy-Marqueste 2009	100 control individuals	-	-	-	European	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00146496	19645629-cons	PubMed: Gaudy-Marqueste 2009	100 control individuals	-	-	-	European	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00146497	20034068-Patp	PubMed: Li 2009	2-generation family, unaffected carrier parents	-	-	Canada	Mennonite	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00146498	14121-father	PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101	2-generation family, unaffected carrierfather	M	no	Poland	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00146499	14121-mother	PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101	2-generation family, unaffected carrier mother	F	no	Poland	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00146500	20550970-Pat	PubMed: Cunningham 2010	2-generation family, unaffected carrier mother	M	no	(New Zealand)	-	-	-	-	-	MAD	-	1	1	Johan den Dunnen
00146501	MAD4700.3m	PubMed: Ahmad 2010	2-generation family, unaffected carrier father	M	no	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00146502	MAD4700.3f	PubMed: Ahmad 2010	2-generation family, unaffected carrier mother	F	no	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00146503	RD600.3p	PubMed: Ahmad 2012	2-generation family, unaffected carrier parents	-	?	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00146504	RD500.3p	PubMed: Ahmad 2012	2-generation family, unaffected carrier parents	-	yes	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00146505	21267004-Patr	PubMed: BenYaou 2011	2-generation family, unaffected carrier parents, brother and sister	-	yes	Portugal	-	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00146506	21724554-Pat23	PubMed: Dutour 2011	-	M	no	France	-	-	-	-	-	?	diabetes; cardiomyopathy, dilated; fibroblast pre-laminin A accumulation	1	1	Johan den Dunnen
00146507	?	PubMed: Thil 2008	parents first cousins; additional affective fetus	M	yes	Guinea	-	1d	-	-	-	RD	thin, shiny skin exfoliating desquamation, small round open mouth, low-set ears, small pinched nose, joint contractures, distinctive pulmonic atelectasis	2	2	Johan den Dunnen
00146508	20550970-Pat	PubMed: Cunningham 2010	2-generation family, 1 affected	M	no	(New Zealand)	-	-	-	-	-	MAD	-	2	1	Johan den Dunnen
00146509	16297189.A	PubMed: Moulson 2006	father's maternal grandmother and mother's paternal granmother were sisters; unaffected heterozygous parents, 2 sisters and 2 brothers	M	yes	Netherlands	-	-	-	-	-	RD	-	2	7	Johan den Dunnen
00146510	16297189.B	PubMed: Moulson 2006	German origin; unaffected heterozygous father, mother and 2 brothers	?	no	United States	white	-	-	-	-	RD	-	2	5	Johan den Dunnen
00146511	FamD	PubMed: Moulson 2006, PubMed: Miner 2010, {OMIM606480:0007	2 related families (mothers have brother grandfathers), 5 affecteds from two unaffected heterozygous parent couples, unaffected heterozygous brother	?	-	United States	Mennonite	-	-	-	-	RD	-	2	10	Johan den Dunnen
00146512	16297189.C	PubMed: Moulson 2006	unaffected heterozygous parents	?	yes	Guatemala	-	-	-	-	-	RD	-	2	3	Johan den Dunnen
00146513	?	Daumer-Haas ESHG2008 P03.072	distant consanguinity parents; sister of G-30143	F	yes	(Germany)	-	1d	-	-	-	RD	-	2	1	Johan den Dunnen
00146514	?	Daumer-Haas ESHG2008 P03.072	distant consanguinity parents; bother of G-14852	M	yes	(Germany)	-	1d	-	-	-	RD	pregnancy growh retardation, short extremities, reduced movements, shrunken amninon membranes, absent clavicules, thin ribs, abnormal face; born 32nd week	2	1	Johan den Dunnen
00146515	MAD3300.3	PubMed: Miyoshi 2008	sister of MAD3300.5	F	no	Japan	-	>7y	-	-	-	MAD	-	3	1	Johan den Dunnen
00146516	MAD3300.5	PubMed: Miyoshi 2008	sister of MAD3300.3	F	no	Japan	-	>3y	-	-	-	MAD	-	3	1	Johan den Dunnen
00146517	?	PubMed: Kariminejad 2009	related great-grandparents	?	yes	Iran	-	0d	-	-	-	RD	still-born	2	1	Johan den Dunnen
00146518	?	PubMed: Morais 2009	-	F	no	-	white	9d	-	-	-	RD	-	2	1	Johan den Dunnen
00146519	14121	PubMed: Smigiel 20120	2-generation family, first child, related to 14122	?	-	Poland	-	-	-	-	-	RD	IUGR, decreased fetal movements, polyhydramnios; delivery 32w-hypertelorism, down-slanting palpebral fissures, pinched nose, posterior rotated ears, micrognathia, O-position mouth, thin/rigid skin with erosions and scaling, prominent superficial vessels, multiple joints contractures, camptodactyly, absent and small nails, rocker-bottom feet, narrow chest	2	1	Johan den Dunnen
00146520	14122	PubMed: Smigiel 20120	2-generation family, second child, related to 14121	?	-	Poland	-	-	-	-	-	RD	IUGR, decreased fetal movements, polyhydramnios; delivery 33w-hypertelorism, down-slanting palpebral fissures, pinched nose, posterior rotated ears, micrognathia, O-position mouth, thin/rigid skin with erosions and scaling, prominent superficial vessels, multiple joints contractures, camptodactyly, absent and small nails, rocker-bottom feet, narrow chest, thinned epidermal layers, focal hyperorthokeratosis, partial parakeratosis, immature/poorly developed hair follicles and sebaceous glands	2	1	Johan den Dunnen
00146521	14123	PubMed: Yesil 2011	2-generation family, 1 affected	M	yes	Turkey	-	14d	-	-	-	RD	4d-tight, translucent skin, prominent vessels, skin erosions, hypertelorism, antimongoloid axis, sparse eyelashes/eyebrows, pinched nose, natal teeth, microretrognathia and O-shaped mouth, multiple joint contractures, dysplastic clavicles, thin ribs; death from respiratuar distress	2	1	Johan den Dunnen
00146522	19504603-Pat	PubMed: Chen 2009	4-generation family, 1 affected	F	?	Taiwan	Taiwan, Atayal	-	-	-	-	RD	complete chorioamniotic membrane separation	2	1	Johan den Dunnen
00146523	20034068-Pat	PubMed: Li 2009	2-generation family, 1 affected	F	-	Canada	Mennonite	-	-	-	-	RD	-	2	1	Johan den Dunnen
00146524	MAD4700.4	PubMed: Ahmad 2010	MAD4700.4; 2-generation family, affected brother 2	M	no	United States	-	-	-	-	-	MAD	dysplasia, mandibuloacral, atypical; early onset, progeroid	2	1	Johan den Dunnen
00146525	RD600.3	PubMed: Ahmad 2012	2-generation family, 1 affected, 1 possibly affected, 5 spontaneous abortions	F	?	United States	-	-	-	-	-	RD	-	2	1	Johan den Dunnen
00146526	RD500.3	PubMed: Ahmad 2012	2-generation family, 1 affected	F	yes	United States	-	-	-	-	-	RD	-	2	1	Johan den Dunnen
00146527	21267004-Pat	PubMed: BenYaou 2011	2-generation family, 1 affected, 2nd degree related parents	F	yes	Portugal	-	-	-	-	-	MAD	early-onset progeroid syndrome, congenital myopathy with fiber-type disproportion	2	1	Johan den Dunnen
00146528	?	PubMed: Saxena 2010	mother of proband with restrictive dermopathy	F	-	India	-	-	-	-	-	Healthy/Control	-	1	2	Renu Saxena
00146529	2008-099-010	-	-	-	-	-	-	-	-	-	-	RD	-	2	1	Tom Winder
00146530	2008-234-007	-	-	-	-	(United States)	-	-	-	-	-	RD	-	2	1	Tom Winder
00146531	2008-185-004	-	-	-	-	United States	-	-	-	-	-	RD	-	1	1	Tom Winder
00146532	2010-263-007	-	-	M	-	United States	-	-	-	-	-	RD	-	2	1	Tom Winder
00146533	2009-051-008	PubMed: Ahmad 2010	MAD4700.3; 2-generation family, affected brother 1	M	-	United States	-	-	-	-	-	MAD	dysplasia, mandibuloacral, atypical; early onset, progeroid	2	1	Tom Winder
00146534	Fam1a	PubMed: Jagadeesh 2009	1 of 3 affecteds Fam1	F	no	India	South Indian	2d	-	-	-	RD	born 32w; small eyes/nose, low set ears, open mouth; dolicocephalic head, open sutures, wide open anterior fontanelle; taut skin, parched and peeling, shallow respiration; joints/limbs stiff, movement restriction; chest X-ray dysplastic clavicles	2	1	Parag Tamhankar
00146535	Fam1b	PubMed: Jagadeesh 2009	1 of 3 affecteds Fam1	M	no	India	South Indian	-	-	-	-	RD	terminated pregnancy (14-15w); no structural anomaly	2	1	Parag Tamhankar
00146536	Fam1c	PubMed: Jagadeesh 2009	1 of 3 affecteds Fam1	?	no	India	South Indian	-	-	-	-	RD	30w-reduced fetal movements, polyhydramnios; 32w-progressive polyhydramnios, maternal distress, caesarean section delivery	2	1	Parag Tamhankar
00146537	Fam2	PubMed: Jagadeesh 2009	-	M	-	India	South Indian	-	-	-	-	RD	33-34w-premature membrane rupture, meconium stained liquor, emergency caesarian section; tight dry and parched skin, small eyes/nose/mouth; joint contractures, fluid collections in scrotal sacs/subareolar region; chest X-ray hypoplastic clavicles	2	1	Parag Tamhankar
00146538	DEBARS-L-002	-	healthy father of DEBARS-L-001	M	-	(France)	-	-	-	-	-	Healthy/Control	-	1	1	Claire Navarro
00146539	?	CNavarro, submitted	-	F	yes	Turkey	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146540	?	CNavarro, submitted	-	F	no	-	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146541	?	CNavarro, submitted	-	M	yes	Germany	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146542	?	CNavarro, submitted	-	M	no	-	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146543	?	CNavarro, submitted	-	M	no	-	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146544	MAD-Fam7	CNavarro, submitted	-	F	no	Turkey	-	-	-	-	-	MAD	dysplasia, mandibuloacral, with type B lipodystrophy (MAD-B)	2	1	Claire Navarro
00146545	Fam1	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146546	Fam2	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146547	Fam3	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146548	Fam4	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146549	Fam5	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146550	Fam6	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146551	Fam7	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146552	Fam8	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146553	Fam9	-	-	-	no	(France)	-	-	-	-	-	RD	-	2	1	Claire Navarro
00146554	DEBARS-L-001	-	-	M	-	(France)	-	-	-	-	-	?	syndrome, De barsy like	1	1	Claire Navarro
00146555	?	-	-	M	yes	(France)	-	-	-	-	-	?	syndrome, progeroid, unclassified	2	1	Claire Navarro
00289829	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	58	Mohammed Faruq

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Global Variome shared LOVD

ZMPSTE24 (zinc metallopeptidase STE24)