All individuals with variants in gene ZFHX3

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.

80 entries on 1 page. Showing entries 1 - 80.

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
00271474	-	-	-	-	-	Saudi Arabia	Arab	-	-	-	-	ADHD	-	1	1	Nada Al Tassan
00410915	Pat1	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410916	Pat2	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410917	Pat3	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410918	Pat4	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410919	Pat5	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410920	Pat6	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410921	Pat7	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410922	Pat8	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	-	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410923	Pat9	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	-	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410924	Pat10	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	family, affected son, sister and father	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	3	Johan den Dunnen
00410925	Pat11	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410926	Pat12	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410927	Pat13	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00410928	Pat14	del Rocío Perez Baca BeSHG2022, AbsT25, PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00445168	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1935	Johan den Dunnen
00445169	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	78	Johan den Dunnen
00445170	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	64	Johan den Dunnen
00445171	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	59	Johan den Dunnen
00445172	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	36	Johan den Dunnen
00445173	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	24	Johan den Dunnen
00445174	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	22	Johan den Dunnen
00445175	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	21	Johan den Dunnen
00445176	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	11	Johan den Dunnen
00445177	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	10	Johan den Dunnen
00445178	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	6	Johan den Dunnen
00445179	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	5	Johan den Dunnen
00445180	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	5	Johan den Dunnen
00445181	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00445182	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00445183	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00445184	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00445185	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00445186	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00445187	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00445188	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00445189	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00445190	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00445191	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00445192	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00445193	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00445194	control	PubMed: Wallenius 2024, Journal: Wallenius 2024	anlysis 2300 normal alleles	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00445195	Fam1PatIII1	PubMed: Wictorin 2014, PubMed: Wallenius 2024, Journal: Wallenius 2024	5-generation family, 18 affected	F	-	Sweden	-	-	-	-	-	SCA	see paper; ..., balance disturbance; wheelchair bound; severe dysarthria; dysphagia; slow ocular saccades; no paresthesia; sensory impairment in extremities; areflexia; involuntary leg jerks and facial twitching; 57y-MRI severe cerebellar atrophy; EMG sensory neuropathy; fluctuating blood pressure; constipation; recurring urinary-tract infections; unintended weight loss (BMI <18)	2	18	Johan den Dunnen
00445196	Fam2PatIV1	PubMed: Wictorin 2014, PubMed: Wallenius 2024, Journal: Wallenius 2024	4-generation family, 7 affected (F, 6M)	M	-	Sweden	-	-	-	-	-	SCA	see paper; ..., balance disturbance; wheelchair bound; severe dysarthria; no dysphagia; slow ocular saccades; NA; sensory impairment in extremities; areflexia; involuntary facial twitching, familial basal ganglia calcification; 37y-MRI cerebellar atrophy; orthostatic hypotension; bowel urgency, diarrhea; no urinary symptoms; unintended weight loss (BMI <18)	2	7	Johan den Dunnen
00445197	Fam3PatIII1	PubMed: Wallenius 2024, Journal: Wallenius 2024	4-generation family, 4 affected (F, 3M)	M	-	-	-	-	-	-	-	SCA	see paper; ..., balance disturbance; wheelchair bound; dysarthria; dysphagia; slow ocular saccades; no paresthesia; sensory impairment in extremities; areflexia; restless legs; EMG sensorimotor neuropathy; constipation; urinary symptoms; no unintended weight loss	2	4	Johan den Dunnen
00445198	Fam4PatIV1	PubMed: Wallenius 2024, Journal: Wallenius 2024	4-generation family, 7 affected (5F,2M)	F	-	-	-	-	-	-	-	SCA	see paper; ..., gait ataxia, limb ataxia; requires walking support; dysarthria; dysphagia; slow ocular saccades; no paresthesia; sensory impairment in extremities; hyporeflexia; anxiety, painful leg cramps; 43y-MRI cerebellar atrophy; orthostatic hypotension; alternating constipation, diarrhea; urinary symptoms urgency; unintended weight loss (BMI <18)	2	7	Johan den Dunnen
00445199	Fam5PatIII1	PubMed: Wallenius 2024, Journal: Wallenius 2024	3-generation family, affected father/daughter	F	-	Sweden	-	-	-	-	-	SCA	see paper; ..., balance disturbance; walking sticks; no dysarthria; dysphagia; paresthesia; sensory impairment in extremities; areflexia; flushes, restless legs; EMG sensory neuropathy; orthostatic hypotension; constipation; urinary symptoms urgency; no unintended weight loss	2	2	Johan den Dunnen
00445200	Fam1PatIII2	PubMed: Wallenius 2024, Journal: Wallenius 2024	nephew	M	-	Sweden	-	-	-	-	-	SCA	see paper; ..., balance disturbance; wheelchair bound; dysarthria; no dysphagia; slow ocular saccades; tingling sensation in feet; sensory impairment in extremities; areflexia; fasciculations; 43y-MRI cerebellar atrophy; EMG sensorimotor neuropathy; no orthostatic hypotension; bowel urgency; no urinary symptoms, no sexual dysfunction; no unintended weight loss	2	2	Johan den Dunnen
00445201	Fam1PatIV1	PubMed: Wallenius 2024, Journal: Wallenius 2024	son PatIII2	M	-	Sweden	-	28y	-	-	-	SCA	see paper; ..., 28y-deceased; balance disturbance; walker at home, wheelchair outside; dysarthria; dysphagia; slow ocular saccades; sensory impairment in extremities; areflexia; profuse sweating, cough, excessive airway mucus production, involuntary facial twitching, atypical autism; 20y-MRI no cerebellar atrophy; EMG sensorimotor neuropathy; orthostatic hypotension; constipation; urinary retention; unintended weight loss (BMI <18)	2	2	Johan den Dunnen
00445202	Fam1PatV1	PubMed: Wallenius 2024, Journal: Wallenius 2024	granddaughter PatIII1	F	-	Sweden	-	-	-	-	-	?	see paper; ..., delayed psycho-motor development; walker aid; dysarthria; dysphagia; no slow ocular saccades; pain in legs; no sensory impairment in extremities; normal deep tendon reflexes; hypotonic infant, hyperlaxity, myoclonic jerks, behavioral problems, everted foot posture; 2y-MRI severe cerebellar atrophy; EMG normal; no orthostatic hypotension; incontinence and constipation; incontinence; no unintended weight loss	2	2	Johan den Dunnen
00445203	Fam1PatV2	PubMed: Wallenius 2024, Journal: Wallenius 2024	granddaughter PatIII1. sister III1	F	-	Sweden	-	-	-	-	-	?	see paper; ..., abnormal gait, limb ataxia; ambulant; dysarthria; no dysphagia; no slow ocular saccades; tingling sensation in feet, pain in legs; no sensory impairment in extremities; hyporeflexia; hyperlaxity, myoclonic jerks, attention deficit; 2y-MRI cerebellar atrophy; no orthostatic hypotension; constipation; incontinence; no unintended weight loss	2	2	Johan den Dunnen
00445204	Fam3PatIV1	PubMed: Wallenius 2024, Journal: Wallenius 2024	son PatIII2	M	-	Sweden	-	-	-	-	-	SCA	see paper; ..., balance disturbance; ambulant; dysarthria; no dysphagia; slow ocular saccades; no paresthesia; no sensory impairment in extremities; areflexia; neuralgia, subjective cranial sensation; 49y-MRI cerebellar atrophy; no orthostatic hypotension; no bowel symptoms; no urinary symptoms; no unintended weight loss	2	2	Johan den Dunnen
00448082	Pat15	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00448083	Pat16	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00448084	Pat17	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	F	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00448085	Pat18	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism	1	1	Johan den Dunnen
00448086	Pat19	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	patient	-	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448087	Pat20	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448088	Pat21	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448089	Pat22	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448090	Pat23	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448091	Pat24	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448092	Pat25	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	-	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448093	Pat26	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448094	Pat27	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448095	Pat28	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448096	Pat29	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448097	Pat30	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	patient	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448098	Pat31	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448099	Pat32	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448100	Pat33	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448101	Pat34	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448102	Pat35	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	F	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448103	Pat36	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448104	Pat37	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	family, 5 affected, patient, father, first cousin, paternal aunt, grandmother	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	5	Johan den Dunnen
00448105	Pat38	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	family, 5 affected	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448106	Pat39	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448107	Pat40	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	2-generation family, 1 affected, unaffected heterozygous parents	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448108	Pat41	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	patient	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen
00448109	Pat42	PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024	patient	M	-	-	-	-	-	-	-	NDD	(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics	1	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

ZFHX3 (zinc finger homeobox 3)