Disease #05525 (MOPD (dwarfism, primordial, osteodysplastic, microcephalic (MOPD)))

Official abbreviation	MOPD
Name	dwarfism, primordial, osteodysplastic, microcephalic (MOPD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	64
Phenotype entries for this disease	64
Associated with 2 genes	PCNT, RNU4ATAC
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-12-01 16:39:22 +01:00 (CET)
Date last edited	N/A

Individuals

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.

64 entries on 1 page. Showing entries 1 - 64.

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
00207814	21474760-Fam1	PubMed: He 2011	7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam2)	F	yes	United States	Amish, Ohio	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	3	Johan den Dunnen
00207815	21474760-Fam2	PubMed: He 2011	7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam1)	F	yes	United States	Amish, Ohio	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	3	Johan den Dunnen
00207816	21474760-Fam3	PubMed: He 2011	3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	United States	Amish, Ohio	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	2	Johan den Dunnen
00207817	21474760-Fam4	PubMed: He 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	Amish, Ohio	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207818	21474760-Fam5	PubMed: He 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	Amish, Ohio	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207819	21474760-Fam6	PubMed: He 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	United States	Amish, Ohio	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207820	21474760-Fam7	PubMed: He 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	United States	Amish, Ohio	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207821	21474760-FamPat8	PubMed: He 2011	unaffected heterozygous carrier parents	-	-	Australia	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207822	21474760-FamPat9	PubMed: He 2011	unaffected heterozygous carrier parents	-	-	Germany	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207823	21474760-FamPat10	PubMed: He 2011	unaffected heterozygous carrier parents	-	-	Germany	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00207824	21474761-Fam1	PubMed: Edery 2011	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	yes	Algeria	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	2	Johan den Dunnen
00207825	21474761-Fam2	PubMed: Edery 2011	3-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207826	21474761-Fam3	PubMed: Edery 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Morocco	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207827	21474761-Fam4	PubMed: Edery 2011	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	yes	Morocco	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	2	Johan den Dunnen
00207828	21474761-Fam5	PubMed: Edery 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	India	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207829	21474761-Fam6	PubMed: Edery 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	white	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00207830	21474761-Fam7	PubMed: Edery 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	white	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00207831	21474761-Fam8	PubMed: Edery 2011	2-generation family, 1 affected fetus, unaffected heterozygous carrier parents	F	-	Norway	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	3	1	Johan den Dunnen
00207836	22581640-Fam1Pat1	PubMed: Abdel-Salam 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	no	Egypt	-	-	-	-	-	MOPD	see paper; no severe developmental delay, no neurological symptoms, ...	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00207837	22581640-Fam2Pat2/3	PubMed: Abdel-Salam 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F;M	yes	Yemen	-	-	-	-	-	MOPD	see paper; no severe developmental delay, no neurological symptoms, ...	RNU4ATAC	RNU4ATAC	1	2	Johan den Dunnen
00207838	21815888-Pat1	PubMed: Nagy 2012	-	F	-	United States	Amish	1y6m	-	-	-	MOPD	microcephaly (HP:0000252); typical face; musculoskeletal features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207839	21815888-Pat2	PubMed: Nagy 2012	-	F	-	United States	Amish	3m15d	-	-	-	MOPD	microcephaly (HP:0000252); typical face; musculoskeletal features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207840	21815888-Pat3	PubMed: Nagy 2012	-	F	-	United States	Amish	2m23d	-	-	-	MOPD	microcephaly (HP:0000252); typical face; musculoskeletal features; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207841	21815888-Pat4	PubMed: Nagy 2012	-	F	-	United States	Amish	10m	-	-	-	MOPD	microcephaly (HP:0000252); typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207842	21815888-Pat5	PubMed: Nagy 2012	-	M	-	United States	Amish	9m15d	-	-	-	MOPD	microcephaly (HP:0000252); typical face; musculoskeletal features; no other organ anomalies; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207843	21815888-Pat6	PubMed: Nagy 2012	-	F	-	United States	Amish	-	-	-	-	MOPD	microcephaly (HP:0000252); typical face; musculoskeletal features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207844	21815888-Pat7	PubMed: Nagy 2012	-	-	-	United States	Amish	-	-	-	-	MOPD	-	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207845	21815888-Pat8	PubMed: Nagy 2012	-	-	-	United States	Amish	-	-	-	-	MOPD	-	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207846	21815888-Pat9	PubMed: Nagy 2012	-	M	-	United States	Amish	10m	-	-	-	MOPD	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207847	21815888-Pat10	PubMed: Nagy 2012	-	F	-	United States	Amish	10m	-	-	-	MOPD	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair featuresm	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207848	21815888-Pat11	PubMed: Nagy 2012	-	F	-	United States	Amish	4m15d	-	-	-	MOPD	-	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207849	21815888-Pat12	PubMed: Nagy 2012	-	F	-	United States	Amish	8m15d	-	-	-	MOPD	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; no other organ anomalies; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207850	21815888-Pat13	PubMed: Nagy 2012	-	F	-	United States	Amish	>1y	-	-	-	MOPD	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207851	21815888-Pat14	PubMed: Nagy 2012	-	F	-	United States	Amish	8m15d	-	-	-	MOPD	microcephaly (HP:0000252); typical face; musculoskeletal features; hydrocephaly; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207852	21815888-Pat15	PubMed: Nagy 2012, Haan 1989	-	M	-	Malta	-	1m	-	-	-	MOPD	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207853	21815888-Pat16	PubMed: Nagy 2012	-	F	-	Germany	-	>9y	-	-	-	MOPD	microcephaly (HP:0000252); typical brain anomalies; typical face; no musculoskeletal features; skin/hair features	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207854	21815888-Pat17	PubMed: Nagy 2012,Klinge 2002	-	M	-	Germany	-	>12y9m	-	-	-	MOPD	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; 2y-acute lymphocytic leukemia; skin/hair features	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00207855	21990275-Fam1PatIV2/3	PubMed: Abdel-Salam 2011	4-generation family, affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Egypt	-	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207856	23794361-Fam1Pat1/2	PubMed: Abdel-Salam 2013	2-generation family, affected brothers, unaffected heterozygous carrier parents	M	-	Egypt	-	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	1	2	Johan den Dunnen
00207857	23794361-Fam2Pat3	PubMed: Abdel-Salam 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Egypt	-	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207858	23794361-Fam3Pat4/5	PubMed: Abdel-Salam 2013	2-generation family, affected sisters, unaffected heterozygous carrier parents	F	yes	Egypt	-	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	1	2	Johan den Dunnen
00207859	25735804-Fam1Pat1	PubMed: Kilic 2015	-	M	yes	Turkey	-	>03y	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207860	26419500-FamPat1	PubMed: Abdel-Salam 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Egypt	-	>18y	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207862	21815888-Pat1	PubMed: Putoux 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	India	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00207863	21815888-Pat2	PubMed: Putoux 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Malta	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207864	21815888-Pat3	PubMed: Putoux 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Turkey	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207865	21815888-Pat4	PubMed: Putoux 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Rwanda	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207866	21815888-Fet1	PubMed: Putoux 2016	2-generation family, affected fetus, unaffected heterozygous carrier parents	-	-	France	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207867	21815888-Fet2	PubMed: Putoux 2016	2-generation family, affected fetus, unaffected heterozygous carrier parents	-	-	Netherlands	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00207868	21815888-Fet3/4	PubMed: Putoux 2016	2-generation family, affected twin fetuses, unaffected heterozygous carrier parents	-	-	France	-	-	-	-	-	MOPD	see paper; …	RNU4ATAC	RNU4ATAC	2	2	Johan den Dunnen
00207869	27312855-FamPat	PubMed: Ferrell 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	United States	-	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207870	28623346-Fam2PatII1/2	PubMed: Bogaert 2017	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	no	Belgium	-	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	2	2	Johan den Dunnen
00207873	29263834-FamK1PatIII3	PubMed: Dinur Schejter 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	1	1	Johan den Dunnen
00207874	29263834-FamK2PatII1	PubMed: Dinur Schejter 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	India	Tamil	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00207880	30455926-Pat1	PubMed: Hallermayr 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Germany	-	-	-	-	-	MOPD	see paper; ...	RNU4ATAC	RNU4ATAC	2	1	Johan den Dunnen
00225597	-	Journal: Tarnauskaite 2019	-	F	yes	Italy	-	-	-	-	-	MOPD	see paper; ...	-	DNA2	1	1	David A. Parry
00225620	-	Journal: Tarnauskaite 2019	-	F	-	-	-	-	-	-	-	MOPD	see paper; ...	DNA2	DNA2	1	1	David A. Parry
00225622	P3	Journal: Tarnauskaite 2019	-	F	no	United States	-	-	-	-	-	MOPD	see paper; ...	-	DNA2	2	1	David A. Parry
00225623	P4	Journal: Tarnauskaite 2019	-	M	no	India	-	-	-	-	-	MOPD	see paper; ...	-	DNA2	1	1	David A. Parry
00359446	-	-	-	-	-	(Brazil)	-	-	-	-	-	MOPD	-	-	PCNT	1	1	Cynthia Silveira
00460156	FamPatII1/2	PubMed: Kantaputra 2011	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	-	Thailand	-	-	-	-	-	MOPD	see paper; ..., intra-uterine growth retardation, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia, opalescent teeth, abnormally shaped teeth, rootless molars, all teeth small, mandibular premolars unusually small/malformed, teeth loose, occlusal/incisal surfaces wore off very quickly	PCNT	PCNT	2	2	Johan den Dunnen
00460157	Fam2PatII1/2	PubMed: Kantaputra 2011	5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives	F;M	-	Thailand	-	-	-	-	-	MOPD	see paper; ..., IUGR, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia; skin anomalies	PCNT	PCNT	1	2	Johan den Dunnen
00460159	Fam1	PubMed: Weiss 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Israel	Druze	-	-	-	-	MOPD	see paper; ...	PCNT	PCNT	1	1	Johan den Dunnen
00460160	Fam2	PubMed: Weiss 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Israel	Druze	-	-	-	-	MOPD	see paper; ...	PCNT	PCNT	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

VHL (von Hippel-Lindau tumor suppressor, E3 ubiquit...)