Disease #00198 (? (unclassified / mixed))

Official abbreviation	?
Name	unclassified / mixed
OMIM ID	-
Inheritance	-
Individuals reported having this disease	42442
Phenotype entries for this disease	29328
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-09-13 14:21:47 +02:00 (CEST)
Date last edited	2024-11-23 09:38:12 +01:00 (CET)

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

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Operator	Column type	Example	Matches
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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'

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42442 entries on 425 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

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
00000011	NA04364	PubMed: Bell 2011	-	M	-	-	-	-	-	-	-	?	-	ACADM, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1, TNNT1	ADA, ATP7B, ATR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, PRKAR1A, SERPINA1, SMPD1, TMPPE	11	1	Global Variome, with Curator vacancy
00001618	24744435-FamPatIV	PubMed: Balboa-Beltran 2014	4-generation family, 7 affecteds (6F, M)	F	no	Spain	-	-	-	-	-	?	Milroy-like disease, see paper; ...	VEGFC	VEGFC	1	1	Francisco Barros
00002675	-	PubMed: Rozen 2012	-	M	-	India	-	-	-	-	-	?	-	-	-	1	27	Johan den Dunnen
00002676	-	PubMed: Rozen 2012	-	M	-	Poland	-	-	-	-	-	?	-	-	-	1	115	Johan den Dunnen
00002677	-	PubMed: Rozen 2012	-	M	-	Tunisia	-	-	-	-	-	?	-	-	-	1	41	Johan den Dunnen
00002678	-	PubMed: Rozen 2012	-	M	-	United States	-	-	-	-	-	?	-	-	-	1	312	Johan den Dunnen
00002679	-	PubMed: Rozen 2012	-	M	-	Viet Nam	-	-	-	-	-	?	-	-	-	1	107	Johan den Dunnen
00002680	-	PubMed: Rozen 2012	-	M	-	Viet Nam	-	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002681	-	PubMed: Rozen 2012	-	M	-	United States	-	-	-	-	-	?	-	-	-	1	121	Johan den Dunnen
00002682	-	PubMed: Rozen 2012	-	M	-	Tunisia	-	-	-	-	-	?	-	-	-	1	3	Johan den Dunnen
00002683	-	PubMed: Rozen 2012	-	M	-	Poland	-	-	-	-	-	?	-	-	-	1	105	Johan den Dunnen
00002684	-	PubMed: Rozen 2012	-	M	-	India	-	-	-	-	-	?	-	-	-	1	2	Johan den Dunnen
00002685	-	PubMed: Rozen 2012	-	M	-	India	-	-	-	-	-	?	-	-	-	1	2	Johan den Dunnen
00002686	-	PubMed: Rozen 2012	-	M	-	Poland	-	-	-	-	-	?	-	-	-	1	2	Johan den Dunnen
00002687	-	PubMed: Rozen 2012	-	M	-	Tunisia	-	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002688	-	PubMed: Rozen 2012	-	M	-	United States	-	-	-	-	-	?	-	-	-	1	16	Johan den Dunnen
00002690	-	PubMed: Rozen 2012	-	M	-	Poland	white	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002691	-	PubMed: Rozen 2012	-	M	-	Poland	white	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002692	-	PubMed: Rozen 2012	-	M	-	United States	white	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002693	-	PubMed: Rozen 2012	-	M	-	United States	Hispanic	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002694	-	PubMed: Rozen 2012	-	M	-	United States	white	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002695	-	PubMed: Rozen 2012	-	M	-	United States	white	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002696	-	PubMed: Rozen 2012	-	M	-	United States	white	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002697	-	PubMed: Rozen 2012	-	M	-	United States	white	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002698	-	PubMed: Rozen 2012	-	M	-	United States	Hispanic	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002699	-	PubMed: Rozen 2012	-	M	-	Poland	white	-	-	-	-	?	-	-	-	1	1	Johan den Dunnen
00002700	-	PubMed: Rozen 2012	-	M	-	Poland	white	-	-	-	-	?	-	-	-	2	1	Johan den Dunnen
00002834	-	-	-	-	-	Spain	-	-	-	-	-	?	stiff-person-like syndrome	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002846	-	-	-	-	-	Spain	-	-	-	-	-	?	early onset, cerebellar and pyramidal signs	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002903	-	PubMed: Rohkamm et al., J. Neurol. Sci. 2007	18 affected	-	?	-	-	-	-	-	-	?	-	-	-	-	18	María-Jesús Sobrido
00002904	-	PubMed: Rohkamm et al., J. Neurol. Sci. 2007	13 affected	-	?	-	-	-	-	-	-	?	-	-	-	-	13	María-Jesús Sobrido
00002943	-	PubMed: Guillen-Navarro 2013	4-generation family, twin brother Fam3PatIII1	M	no	Spain	-	-	-	-	-	?	-	BSCL2	-	-	1	Johan den Dunnen
00002959	-	PubMed: Guillen-Navarro 2013	-	M	no	Spain	-	-	-	-	-	?	-	-	-	-	1	Johan den Dunnen
00002960	-	PubMed: Guillen-Navarro 2013	-	M	no	Spain	-	-	-	-	-	?	-	-	-	-	1	Johan den Dunnen
00002993	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	progressive hearing loss	EYA4	EYA4	2	1	Marcel Nelen
00002994	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	progressive hearing loss with comorbidity	COL11A1	COL11A1	1	1	Marcel Nelen
00002995	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	Usher type 2	USH2A	USH2A	2	1	Marcel Nelen
00002996	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	Retinitis pigmentosa (RP)	MYO15A	MYO15A	2	1	Marcel Nelen
00002997	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	slowly progressive hearing loss	MYO6	MYO6	1	1	Marcel Nelen
00002998	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	low frequency hearing loss	WFS1	WFS1	1	1	Marcel Nelen
00002999	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?, MD	congenital discant severe hearing loss	USH2A	USH2A	2	1	Marcel Nelen
00003000	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?, MD	bowlshaped hearing loss	CDH23	CDH23, MYO6	3	1	Marcel Nelen
00003001	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	progressive hearing loss	MYH9	MYH9	1	1	Marcel Nelen
00003002	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	congenital, severe hearing loss	MYO15A	MYO15A	3	1	Marcel Nelen
00003003	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	sensorineuralprogressive hearing loss with flat audiogram	SMPX	SMPX	1	1	Marcel Nelen
00003004	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	progressive midfreq bilateral hearing loss	EYA1	EYA1	1	1	Marcel Nelen
00003005	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	progressive, postlingual hearing loss	MYO7A	MYO7A	1	1	Marcel Nelen
00003006	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	bowlshaped hearing loss	COL11A1	COL11A1	1	1	Marcel Nelen
00003007	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	high frequency hearing loss	EYA1	EYA1	1	1	Marcel Nelen
00003008	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	progressive hearing loss	GPR98	GPR98	2	1	Marcel Nelen
00003019	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	PMR, epilepsy, myopathy, dystonia Leigh syndrome	MTFMT	MTFMT	2	1	Marcel Nelen
00003020	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	PMR, autism, ataxia	RARS2	RARS2	2	1	Marcel Nelen
00003021	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	Myopathy, psychiatric problems	MFN2	MFN2	1	1	Marcel Nelen
00003022	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	exercise intolerance	TK2	TK2	1	1	Marcel Nelen
00003023	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	PMR, Leigh syndrome	NDUFA1	NDUFA1	1	1	Marcel Nelen
00003024	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	Myopathy	NDUFA1	NDUFA1	1	1	Marcel Nelen
00003025	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	PMR, myopathy, Leigh syndrome	TUFM	TUFM	2	1	Marcel Nelen
00003026	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	CRC39	MUTYH	MUTYH	2	1	Marcel Nelen
00003031	-	-	-	F	no	Russian Federation	russian	-	-	-	-	?	-	FBN1	FBN1	1	1	Yulia Rogozhina
00003071	-	-	creative dance performance	-	-	Israel	-	-	-	-	-	?	-	AVPR1A	AVPR1A	25	826	Johan den Dunnen
00003245	-	PubMed: Luddi 2009	father of II1/2	M	-	Italy	-	-	-	-	-	?	-	-	GYG2P1, TTTY15, USP9Y	1	3	Johan den Dunnen
00003246	-	PubMed: Luddi 2009	son of I1, brother of II2	M	no	Italy	-	-	-	-	-	?	normal sperm count (60M/ml); mild asthenozoospermia; FISH normal disomy counts	DDX3Y	GYG2P1, TTTY15, USP9Y	1	1	Johan den Dunnen
00004126	-	-	Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder	-	-	Germany	-	-	-	-	-	?	-	TGFB2	TGFB2	1	1	Georg Rosenberger
00004127	-	-	Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder	-	-	Germany	-	-	-	-	-	?	-	TGFB2	TGFB2	1	1	Georg Rosenberger
00004166	-	-	-	?	?	-	-	-	-	-	-	?	-	PRNP	PRNP	2	1	Johan den Dunnen
00004167	-	-	-	?	?	-	-	-	-	-	-	?	-	PRNP	PRNP	2	1	Johan den Dunnen
00004298	-	PubMed: Beck 2010	-	-	-	-	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00004301	-	-	-	-	-	-	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00004302	-	PubMed: Mead 2007	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00004303	-	PubMed: Poulter 1992	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00004304	-	PubMed: Kaski 2011	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00004305	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00004489	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00004499	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00004500	-	PubMed: Mead 2007	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	PRNP	PRNP	1	1	J Beck
00011670	-	-	-	-	-	-	-	-	-	-	-	?	-	PXDN	PXDN	1	1	Anne Slavotinek
00011677	24827421-P1	PubMed: Diodato 2014	-	M	?	Italy	-	-	-	-	-	?	psycomotor regression, microcephalia	VARS2	VARS2	1	1	Daniele Ghezzi
00011679	24827421-P2/P3	PubMed: Diodato 2014	2-generation family, 2 affecteds	M	no	Italy	-	-	-	-	-	?	Mitochondrial disorder	TARS2	TARS2	2	1	Daniele Ghezzi
00013689	-	-	-	F	-	Germany	-	-	-	no (pedigree)	-	?	additional phenotype data available; colorectal phenotype normal no polyps; no colon cancer	APC	APC, CRYAA	2	1	Stefan Aretz
00016080	-	Huntsman Cancer Institute - HGCR, University of Utah, 2000 Circle of Hope Drive, Rm 1132, Salt lake City, Utah 84112	Gardner fibroma	-	-	Germany	-	-	-	yes (pedigree)	-	?	additional phenotype data available	APC	APC	1	1	Stefan Aretz
00016128	-	PubMed: Soler-Alfonso 2014	3-generation family, affected mother II-3	F	?	United States	white	>37y	-	-	-	?	Developmental delay, learning disability, bipolar disorder, anxiety disorder, epilepsy	CHRNA7	CHRNA7	1	4	Christian Schaaf
00016209	-	PubMed: Gordon 2013	2-generation family, father and daugther (23315542-Pat7)	M	no	-	-	-	-	-	-	?	normal ears, large cheeks, possible hypoplasia angle mandible	GNAI3	GNAI3	1	1	Johan den Dunnen
00016300	-	PubMed: Soler-Alfonso 2014	3-generation family, affected grandfather I.1	M	-	United States	white	-	-	-	-	?	alcoholism, drug addiction, abusive behaviors to family members; multiple family members with alcoholism	CHRNA7	CHRNA7	1	1	Christian Schaaf
00016302	-	-	-	-	-	Spain	-	-	-	-	-	?	-	-	BSCL2	1	1	Sergio Piñeiro
00016312	-	-	-	F	no	-	-	-	-	-	-	?	-	PXDN	PXDN	2	1	Anne Slavotinek
00016315	-	-	-	M	-	Albania	-	-	-	-	-	?	atypical metaphyseal anadysplasia, different clinical features and autosomal recessive mode of inheritance	MMP13	MMP13	1	2	Dong Li
00016324	-	-	Diagnosis: Febrile seizures	F	?	Italy	-	-	-	-	-	?	familial febrile seizures	GABRG2, RELN	GABRG2, RELN	2	1	Lab Zuffardi
00016325	-	-	Diagnosis: Benign epilepsy of childhood with centrotempral spikes (BECTS)	M	no	Italy	-	-	-	-	-	?	benign childhood epilepsy with centro-temporal spikes (BCECTS)	GRIN2A, RELN	GRIN2A, RELN	2	1	Lab Zuffardi
00016326	-	-	Diagnosis: Febrile seizures	F	no	Italy	-	-	-	-	-	?	familial febrile seizures	SCN2A	SCN2A	1	1	Lab Zuffardi
00016413	-	PubMed: Makrythanasis 2014	4-generation family, 2 affected bothers, unaffected heterozygous carrier parents (cousins) and sister	M	yes	Egypt	-	-	-	-	-	?	the proband and his brother are affected from a syndrome that comprises: tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly	FGFR3	FGFR3	1	2	Periklis Makrythanasis
00016424	-	Nishiyama 2009	1 affected	F	no	Japan	-	-	-	-	-	?	Congenital Generalized Lipodystrophy type 2	BSCL2	BSCL2	1	1	Sergio Piñeiro
00016427	-	Rahman 2013	2 affected	?	yes	Pakistan	-	-	-	-	-	?	Congenital Generalized Lipodystrophy type 2	BSCL2	BSCL2	1	2	Sergio Piñeiro
00016428	-	Huang 2013	1 affected, 2 unaffected carrier parents	?	no	China	-	-	-	-	-	?	Congenital Generalized Lipodystrophy type 2	BSCL2	BSCL2	1	3	Sergio Piñeiro
00016429	-	Jeninga 2013	1 affected; 4 unaffected carriers	?	yes	Turkey	-	-	-	-	-	?	Congenital Generalized Lipodystrophy type 2	BSCL2	BSCL2	1	5	Sergio Piñeiro
00016586	-	PubMed: Xia 2014	2-generation family, 1 affected	F	no	(United States)	European	-	-	-	-	?	18m-no words, no sitting, hypotonia, failure to thrive, low-set ears, esotropia, upslanting palpebral fissures, micrognathia, flat nasal bridge, laryngomalacia, obstructive sleep apnea	AHDC1, CALY, CCDC66, PTPRB, TBCK	AHDC1, CALY, CCDC66, PTPRB, TBCK	5	1	Marianne Vos (LOVD-team)
00016587	-	PubMed: Xia 2014	2-generation family, 1 affected	F	?	(United States)	South Asian	-	-	-	-	?	4y-two words; 19m-sitting; 24m-walking; hypotonia, failure to thrive, protuberant ears, upslanting palpebral fissures, flat nasal bridge, obstructive sleep apnea	AHDC1	AHDC1	1	1	Marianne Vos (LOVD-team)
00016588	-	PubMed: Xia 2014	2-generation family, 1 affected	M	?	(United States)	European	-	-	-	-	?	mild intellectual disability; 1y-first words; persistent speech therapy; 9m-sitting; 18m-walking; hypotonia, failure to thrive, protuberant low-set ears, small earlobes, hypertelorism, downslanting palpebral fissures, mild ptosis, micrognathia, laryngomalacia, obstructive sleep apnea	AHDC1	AHDC1	1	1	Marianne Vos (LOVD-team)
00016589	-	PubMed: Xia 2014	2-generation family, 1 affected	M	?	(United States)	European	-	-	-	-	?	intellectual disability, (moderate to severe), no words, noncommunicating autism; 15m-sitting; no independent ambulation, hypotonia, failure to thrive, upturned earlobes, hypertelorism, esotropia, flat nasal bridge, suspected tracheomalacia in infancy, history of snoring; no macrodontia, no skeletal defects, nor other features of KGB syndrome	AHDC1, ANKRD11	AHDC1, ANKRD11	2	1	Marianne Vos (LOVD-team)
00016696	-	PubMed: Coste 2013	Mother of 23487782-Ind2	F	?	-	Unknown	-	-	-	operated for hypertrophic, constricted neck muscles; Physical therapy	?	Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia +7 oculus uterque, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, abstent anterior cruciate ligaments knee, Camptodactyly, Clinodactyly Digits III–V, Dimples over large joints, Exertional dyspnea, Constriction of urethra, FEV1/FVC 60%/53%, Increased muscle tone, Tendon reflexes Weak and absent in knees and ankles, Normal intelligence, Musculoskeletal pain major problem, Altered pain sensation Possibly as child	PIEZO1, PIEZO2	PIEZO2	1	1	Marianne Vos (LOVD-team)
00016697	-	PubMed: Coste 2013	Son of 23487782-Ind1	M	?	-	Unknown	-	-	-	Physical therapy	?	Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Blepharophimosis, Ptosis, Hypermetropia +8/+10, Hunched anteverted shoulders, Likely Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Probably Absent ACL (knee), Camptodactyly, Clinodactyly Digit V, Club feet (left), Dimples over large joints, Exertional dyspnea, Weak Tendon reflexes, Normal intelligence, High pain threshold suspected	PIEZO2	PIEZO2	1	1	Marianne Vos (LOVD-team)

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