All individuals with variants in gene ARSE

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.

96 entries on 1 page. Showing entries 1 - 96.

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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	13	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	15	1	Yu Sun
00114708	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114709	-	-	Female carrier, mother of 0047	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114710	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Respiratory insufficiency and feeding problems at birth. Nasal hypoplasia, single palmar crease and small tufted distal phalanges.; CPDX1	1	1	Claudia Matos-Miranda
00114711	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Midface hypoplasia, brachytelephalangy; CPDX1	1	1	Claudia Matos-Miranda
00114712	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114713	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114714	-	-	Female carrier, mother of 0071	F	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114715	-	-	Female carrier, sister of 0072	F	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114716	-	-	Female carrier, sister of 0071	F	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114717	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114718	-	-	Female carrier, mother of 0075	F	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114719	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114720	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114721	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Microcephaly, flat nose, short stature, puncta in the feet, hands and sacrum; CPDX1	1	1	Claudia Matos-Miranda
00114722	-	-	Female carrier, mother of 0001	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114723	-	-	Female carrier, sister of 0001	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114724	-	-	Female carrier, sister of 0001	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114725	-	-	Female carrier, sister of 0001	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114726	-	-	-	-	-	-	-	-	-	-	-	?	in vitro	1	1	Claudia Matos-Miranda
00114727	-	-	-	-	-	-	-	-	-	-	-	?	-	9	1	Claudia Matos-Miranda
00114728	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114729	-	-	brother of 0036	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114730	-	-	female carrier, mother of 0036	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114731	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114732	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114733	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114734	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114735	-	-	Female carrier, mother of 0055	F	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114736	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Nasal hypoplasia, brachytelephalang; CPDX1	1	1	Claudia Matos-Miranda
00114737	-	-	-	-	-	-	-	-	-	-	-	?	in vitro	1	1	Claudia Matos-Miranda
00114738	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114739	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Nasal hypoplasia, brachytelephalangy; CPDX1	1	1	Claudia Matos-Miranda
00114740	-	-	-	M	-	-	-	-	-	-	-	CPDX1	No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met	1	1	Claudia Matos-Miranda
00114741	-	-	-	-	-	-	-	-	-	-	-	?	in vitro	1	1	Claudia Matos-Miranda
00114742	-	-	-	M	-	-	-	-	-	-	-	CPDX1	No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met	1	1	Claudia Matos-Miranda
00114743	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114744	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Flat nose, brachytelephalangic chondrodysplasia, left school at 9 yo due to poor school perfomance. Maternal grandfather is positive for the same mutation but he is asymptomatic); CPDX1	1	1	Claudia Matos-Miranda
00114745	-	-	maternal grandfather of 0007	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114746	-	-	Female carrier, mother of 0007	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114747	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114748	-	-	Female carrier, mother of 0040	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114749	-	-	-	M	-	-	-	-	-	-	-	CPDX1	No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met ; CPDX1	1	1	Claudia Matos-Miranda
00114750	-	-	-	-	-	-	-	-	-	-	-	?	in vitro	1	1	Claudia Matos-Miranda
00114751	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114752	19377244-Pat?	PubMed: Tarpey 2009	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	?	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	MRX	1	4	Lucy Raymond
00114753	19377245-Pat?	PubMed: Tarpey 2009	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	?	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	MRX	1	1	Lucy Raymond
00114754	-	-	-	M	-	-	-	-	-	-	-	CPDX1	No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met ; CPDX1	1	1	Claudia Matos-Miranda
00114755	-	-	-	-	-	-	-	-	-	-	-	?	in vitro	1	1	Claudia Matos-Miranda
00114756	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114757	-	-	Female carrier, mother of 0042	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114758	19377246-Pat?	PubMed: Tarpey 2009	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	?	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	MRX	1	6	Lucy Raymond
00114759	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114760	-	-	maternal grandfather of 0050	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114761	-	-	Female carrier, mother of 0050	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114762	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114763	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Flat nose, brachytelephalangic chondrodysplasia ; CPDX1	1	1	Claudia Matos-Miranda
00114764	-	-	Female carrier, mother of 0010	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114765	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114766	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114767	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114768	-	-	brother of 0061	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114769	-	-	Female carrier, mother of 0061	F	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114770	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114771	-	-	Female carrier, mother of 0064	F	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114772	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114773	-	-	Female carrier, mother of 0044	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114774	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Calcification of larynx, joint contractures; CPDX1	1	1	Claudia Matos-Miranda
00114775	-	-	Female carrier, mother of 0066	F	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114776	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114777	-	-	brother of 0066	M	-	-	-	-	-	-	-	?	-	1	1	Gene Dx
00114778	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114779	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Midface hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery ; CPDX1	1	1	Claudia Matos-Miranda
00114780	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114781	-	-	brother of 0034	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114782	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Gene Dx
00114783	-	-	-	-	-	-	-	-	-	-	-	?	in vitro	1	1	Claudia Matos-Miranda
00114784	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114785	-	-	-	-	-	-	-	-	-	-	-	?	in vitro	1	1	Claudia Matos-Miranda
00114786	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Nasal hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery and deafness; CPDX1	1	1	Claudia Matos-Miranda
00114787	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Neonatal death, facial dysmorphisms, brachytelephalangy, cararact, disseminated intravascular coagulopathy ; CPDX1	1	1	Claudia Matos-Miranda
00114788	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114789	-	-	-	-	-	-	-	-	-	-	-	?	in vitro	1	1	Claudia Matos-Miranda
00114790	-	-	-	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114791	-	-	maternal uncle of 0012	M	-	-	-	-	-	-	-	CPDX1	CPDX1	1	1	Claudia Matos-Miranda
00114792	-	-	Female carrier, mother of 0012	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114793	-	-	Female carrier, sister of 0012	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114794	-	-	Female carrier, maternal grandmother of 0012	F	-	-	-	-	-	-	-	?	-	1	1	Claudia Matos-Miranda
00114795	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Aborted fetus of 26 weeks with severe nasal hypoplasia, short hands and fingers. X-ray diffuse calcifications of epiphyses, spine and larynx. Absent fusion of the three primitive nasal stalks ; CPDX1	1	1	Claudia Matos-Miranda
00114796	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Nasal hypoplasia, flat midface, brachytelephalangy, punctate calcifications at the X-ray skeletal survery. Multiple coronal clefts of vertebrae. Laryngeal calcifications ; CPDX1	1	1	Claudia Matos-Miranda
00114797	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Nasal hypoplasia, diffuse calcifications of trachea and bronchi. Recurrent and severe episodes of respiratory insufficiency ; CPDX1	1	1	Claudia Matos-Miranda
00114798	-	-	-	M	-	-	-	-	-	-	-	CPDX1	Midface hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery ; CPDX1	1	1	Claudia Matos-Miranda
00359501	-	-	-	-	-	Brazil	-	-	-	-	-	CPDX1	-	1	1	Karina Silveira
00391876	133P	-	-	M	no	Spain	-	-	-	-	-	CPDX1	-	1	1	Alejandro Brea-Fernández
00397618	Tab4-Pat11	PubMed: Zhang 2015	-	-	-	China	-	-	-	-	-	dysplasia, bone	see paper; ...	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

ARSE (arylsulfatase E (chondrodysplasia punctata 1))