Global Variome shared LOVD
FLNA (filamin A, alpha)
LOVD v.3.0 Build 27 [
Current LOVD status
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Curator:
Johan den Dunnen
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All individuals with variants in gene FLNA
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.
299 entries on 3 pages. Showing entries 1 - 100.
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Legend
How to query
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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
-
-
0
-
-
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)
1
1
Yu Sun
00000209
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
0
-
-
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)
5
1
Yu Sun
00016330
-
PubMed: Della Mina 2015
,
Journal: Della Mina 2015
-
F
-
- (not applicable)
-
-
0
-
-
Healthy/Control
-
1
1
Lab Zuffardi
00027224
-
PubMed: Fennell 2015
,
Journal: Fennell 2015
-
F
no
-
-
-
0
-
-
OPD2
, see paper; sagittal sutures affected, broad prominent forehead/brow ridge, no micro/retrognathia, no camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; hHypertelorism, cleft palate, ...
1
1
Stephen Robertson
00027225
-
PubMed: Fennell 2015
,
Journal: Fennell 2015
-
F
no
-
-
-
0
-
-
FMD1
see paper; pansynostosis, broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, no broad/flattened/spatulateterminal digits; long slender digits, flexion deformity elbows, genu valgum, mixed hearing loss
1
1
Stephen Robertson
00027226
-
PubMed: Fennell 2015
,
Journal: Fennell 2015
-
M
no
United Kingdom (Great Britain)
-
-
0
-
-
FMD1
see paper; sutures affected sagittal bilambdoid, no broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; deep set eyes, down-slanting palpebral fissures, disorganised eyebrows, broad philtrum, small mouth, thin upper lip, tongue tie, poor shoulder girdle muscle development, glenoid hypoplasia, hand syndactyly (2, 3), toe syndactyly (2, 3), developmental delay, urethral stenosis, feeding aversion, developed hip dysplasia, ...
1
1
Stephen Robertson
00027228
-
PubMed: Fennell 2015
,
Journal: Fennell 2015
-
M
no
United Kingdom (Great Britain)
-
-
0
-
-
FMD1
see paper; Sagittalmetopic sutures affected, broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; mild exorbitism, grade II congenital subglottic stenosis, recurrent otitis media, umbilical hernia, undermodelling lower limb long bones, C2 pars defect, possible absence seizures, ... Mother prominent supraorbital ridge subject to burring procedure (23); 24y-seizures, otherwise good health, normal intellect; broad, tall forehead, mild hypertelorism, exorbitism a long, triangular chin, normal skull vault contour, anteriorposterior flattening chest with marked pectus excavatum, long fingers with camptodactyly digits (2–5), camptodactyly toes (3–5), with lateral deviation both halluces, no other family history of note
1
1
Stephen Robertson
00028662
19377162-Pat?
PubMed: Tarpey 2009
-
?
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00028663
19377163-Pat?
PubMed: Tarpey 2009
-
?
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00028664
19377164-Pat?
PubMed: Tarpey 2009
-
?
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00028665
19377165-Pat?
PubMed: Tarpey 2009
-
?
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
17
Lucy Raymond
00028666
-
-
2nd daugther healthy unrelated parents
F
-
Germany
-
-
0
-
-
PVNH1
periventricular heterotopia, type 1/frontometaphyseal dysplasia; delayed closure anterior fontanel, craniofacial anomalies, marked genua valga necessitating surgical corrections; 5y-MRI cranial bilateral PVNHs; no seizures, normal motor/mental development; 8y-radiological FMD
3
1
Yu Sun
00028667
19377166-Pat?
PubMed: Tarpey 2009
-
?
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00028668
19377167-Pat?
PubMed: Tarpey 2009
-
?
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00028669
-
PubMed: Huttenlocher 1994
,
PubMed: Fox 1998
son of 09883725.Fam1-IV.3
M
-
(United States)
-
-
0
-
-
PVNH1
death 3d, severe systemic bleeding and organ failure, severe arrest myeloid/erythroid differentiation in bone marrow, lymphoid depletion in thymus
1
1
Yu Sun
00028670
-
PubMed: Huttenlocher 1994
,
PubMed: Fox 1998
mother of 09883725.Fam1-IV.2 and IV.3, unaffected parents
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028671
-
PubMed: Huttenlocher 1994
,
PubMed: Fox 1998
daugther of 09883725.Fam1-III.10
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028672
-
PubMed: Huttenlocher 1994
,
PubMed: Fox 1998
daugther of 09883725.Fam1-III.10
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028673
-
PubMed: Huttenlocher 1994
,
PubMed: Fox 1998
daugther of 09883725.Fam1-IV.2
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028674
-
PubMed: Huttenlocher 1994
,
PubMed: Fox 1998
daugther of 09883725.Fam1-IV.3
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028675
-
PubMed: Huttenlocher 1994
,
PubMed: Fox 1998
daugther of 09883725.Fam1-V.2
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028676
-
PubMed: Fox 1998
mother of 09883725.Fam2-III.1, unaffected parents
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028677
-
PubMed: Fox 1998
daugther of 09883725.Fam2-II.2
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028678
-
PubMed: Fox 1998
unaffected parents
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028679
-
PubMed: Fox 1998
-
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028680
-
PubMed: Fox 1998
-
F
-
(United States)
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028681
-
-
-
M
-
(United States)
-
-
0
-
-
PVNH1
severe, non-lethal; shortened digits, syndactyly, clinodactyly; immune compromise, recurrent infections; small corpus callosum, hypoplastic cerebellum
1
1
Yu Sun
00028682
-
-
-
-
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Yu Sun
00028683
-
PubMed: Masruha 2006
carrier mother mother of II-2,II-3,II-4, no phenotype
F
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Yu Sun
00028684
-
PubMed: Masruha 2006
son of I-2
M
-
-
-
-
0
-
-
PVNH1
Developmental Regression, West Syndrome
1
1
Yu Sun
00028685
-
PubMed: Masruha 2006
son of I-2, twin of II-4
M
-
-
-
-
0
-
-
PVNH1
Developmental Regression, West Syndrome
1
1
Yu Sun
00028686
-
PubMed: Masruha 2006
son of I-2, twin of II-3
M
-
-
-
-
0
-
-
PVNH1
Developmental Regression, West Syndrome
1
1
Yu Sun
00028687
-
-
-
-
-
-
-
-
0
-
-
IPOX
-
1
2
Yu Sun
00028688
-
-
-
-
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Yu Sun
00028689
-
-
-
-
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Yu Sun
00028690
-
PubMed: Moro 2002
mother of 1-III:5, unaffected parents; 3 sons died within 1st week, a brother died as a young adult
F
-
Italy
-
-
0
-
-
PVNH1
epilepsy
1
1
Yu Sun
00028691
-
PubMed: Moro 2002
mother of 1-IV:6 and 1-IV:9, daughter of 1-II:2; 2 sons died at 5mth/day 5, two spontaneous abortions at 5th month, one is male
F
-
Italy
-
-
0
-
-
PVNH1
BPNH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial seizure onset 20y,rare, remission; EEG mild R sided slowing, verbal IQ74/performance IQ97/full-scale IQ81
1
1
Yu Sun
00028692
-
PubMed: Moro 2002
elder sister of 1-IV:9, daughter of 1-III:5
F
-
Italy
-
-
0
-
-
PVNH1
BPNH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial seizure onset at 20yrs,rare,remission; EEG shows mild R sided slowing, verbal IQ/performance IQ/full-scale IQ=74/97/81
1
1
Yu Sun
00028693
-
PubMed: Moro 2002
proband of family 1, daughter of 1-III:5, younger sister of 1-IV:6
F
-
Italy
-
-
0
-
-
PVNH1
NH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial/secondarily generalized seizure onset at 14yrs,once in 4-5 mth,no remission; EEG shows L frontotemporal slow wave, use antiepileptic drugs:carbamazepine,topiramate;verbal IQ/performance IQ/full-scale IQ=70/81/74
1
1
Yu Sun
00028694
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028695
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028696
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028697
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028698
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028699
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028700
-
PubMed: Robertson 2006
has a normal monozygotic twin sister
F
-
-
-
-
0
-
-
MNS
-
1
2
Yu Sun
00028701
-
PubMed: Santos 2010
2-generation family, affected child of mother (Fam2PatI1)
M
no
Brazil
-
00y00m00d
0
-
-
MNS
see paper; died immediately after birth (respiratory difficulties); pregnancy oligohydramnios, bladder dilation, scoliosis, club-feet; birth 34w, caesarean section, birth weight 1,000 g (<3rd centile), length 39.5 cm (<3rd centile), OFC 26.0 cm (<3rd centile); ...
1
1
Yu Sun
00028702
-
PubMed: Santos 2010
2-generation family, mother and affected child (Fam2PatII1)
F
no
Brazil
-
>26y
0
-
-
MNS
see paper; karyotype 46XX, hoarse voice, asymmetric face, prominent eyes, full cheeks, micrognathia, narrow shoulders, excised post-axial polydactyly (left hand), lower limb asymmetry, weight 51 kg, height 162.5 cm, OFC 55.5 cm; X-ray showed mastoid sclerosis, paranasal sinus hypoplasia, irregular clavicles with medial flare, ribbon-like ribs, short scapulae, cortical thickening, anterior concavity thoracic vertebrae, iliac flare, narrow pelvis
1
2
Yu Sun
00028703
-
PubMed: Robertson 2003
,
PubMed: Dudding 1967
-
M
-
-
-
-
0
-
-
OPD1
short stature, bowed bones, abnormal digits, cleft palate
1
2
Yu Sun
00028704
-
PubMed: Robertson 2003
,
PubMed: Biancalana 1991
,
PubMed: Le Marec
-
M
-
-
-
-
0
-
-
OPD1
bowed bones, abnormal digits, cleft palate
1
3
Yu Sun
00028705
-
PubMed: Robertson 2006
unaffected parents, 2 healthy siblings, affected brother; mother germline mosaic
M
-
-
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028706
-
PubMed: Robertson 2006
unaffected parents, 2 healthy siblings, affected brother; mother germline mosaic
M
-
-
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028707
-
PubMed: Robertson 2003
,
PubMed: Robertson 1997
,
PubMed: Robertson 2001
-
M
-
-
-
-
0
-
-
OPD2
omphalocele, perinatal death, bowed bones, abnormal digits
1
3
Yu Sun
00028708
-
PubMed: Robertson 2003
,
PubMed: Young 1993
-
M
-
-
-
-
0
-
-
OPD2
hydrocephalus, omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate
1
2
Yu Sun
00028709
-
PubMed: Robertson 2003
,
PubMed: Young 1993
-
M
-
-
-
-
0
-
-
OPD2
hydrocephalus, omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate
1
2
Yu Sun
00028710
-
PubMed: Robertson 2003
,
PubMed: Savarirayan 2000
-
M
-
-
-
-
0
-
-
OPD2
omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate
1
2
Yu Sun
00028711
-
PubMed: Robertson 2003
,
PubMed: Morava 2003
-
M
-
-
-
-
0
-
-
FMD1
short stature, abnormal digits
1
2
Yu Sun
00028712
-
{PMID16835913:Robertson2006},
PubMed: Robertson 2003
brother of 16835913.case4 proband
M
-
-
-
-
0
-
-
FMD1
-
1
2
Yu Sun
00028713
-
PubMed: Robertson 2006
mother of 16835913.case4 proband
F
-
-
-
-
0
-
-
FMD1
-
1
2
Yu Sun
00028714
-
{PMID16835913:Robertson2006},
PubMed: Robertson 2003
-
M
-
-
-
-
0
-
-
FMD1
-
1
2
Yu Sun
00028715
-
PubMed: Robertson 2006
uncle of 16835913.case4 proband
M
-
-
-
-
0
-
-
FMD1
-
1
2
Yu Sun
00028716
-
PubMed: Robertson 2003
,
PubMed: Albano 1999
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
2
Yu Sun
00028717
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028718
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028719
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
1
Yu Sun
00028720
-
PubMed: Robertson 2003
,
PubMed: Kristiansen 2002
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, abnormal digits
1
2
Yu Sun
00028721
-
-
-
-
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Yu Sun
00028722
-
PubMed: Sheen 2001
Has 5 sons, no spontaneous miscarriages history. 2 sons might be affected.
F
-
-
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028723
-
PubMed: Sheen 2001
-
F
-
-
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
00028724
-
PubMed: Moro 2002
mother of 2-II:5
F
-
Italy
-
-
0
-
-
PVNH1
BPNH, mega cisterna magna, complex partial/secondarily generalized seizure onset at 9yrs,rare,no remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=66/85/74
1
1
Yu Sun
00028725
-
PubMed: Moro 2002
mother of 2-III:1, daughter of 2-I:3
F
-
Italy
-
-
0
-
-
PVNH1
BPNH, mega cisterna magna, complex partial/secondarily generalized seizure onset at 30yrs,rare,remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=71/72/70
1
1
Yu Sun
00028726
-
PubMed: Moro 2002
proband of the family, daughter of 2-II:5
F
-
Italy
-
-
0
-
-
PVNH1
BPNH, mega cisterna magna, simple partial/partial secondarily generalized seizure onset at 14yrs,rare,remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=100/69/83
1
1
Yu Sun
00028727
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
OPD2
short stature, bowed bones, abnormal digits, cleft palate
1
1
Yu Sun
00028728
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
MNS
short stature, bowed bones, (abnormal digits, cleft palate)
1
1
Yu Sun
00028729
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
OPD2
cleft palate
1
1
Yu Sun
00028730
-
PubMed: Robertson 2003
-
F
-
-
-
-
0
-
-
OPD2
perinatal death, short stature, bowed bones, abnormal digits, cleft palate
1
1
Yu Sun
00028731
-
PubMed: Giuliano 2005
mother of proband of 15523633; affected father
F
-
-
-
-
0
-
-
FMD1
supraorbital ridging,hypertelorism, broad nasal bridge, small chin, irregular teeth,and long slender fingers with 3ñ5 camptodactyly
1
1
Yu Sun
00028732
-
PubMed: Giuliano 2005
-
M
-
-
-
-
0
-
-
FMD1
classical FMD
1
1
Yu Sun
00028733
-
PubMed: Robertson 2003
-
M
-
-
-
-
0
-
-
FMD1
bowed bones, abnormal digits
1
1
Yu Sun
00028734
-
{PMID16835913:Robertson2006},
PubMed: Robertson 2003
16835913.case5 proband's mother
F
-
-
-
-
0
-
-
FMD1
-
1
2
Yu Sun
00028735
-
{PMID16835913:Robertson2006},
PubMed: Robertson 2003
16835913.case5 proband
M
-
-
-
-
0
-
-
FMD1
-
1
2
Yu Sun
00028736
-
PubMed: Robertson 2006
16835913.case6 proband's brother
M
-
-
-
-
0
-
-
FMD1
-
1
1
Yu Sun
00028737
-
PubMed: Robertson 2006
16835913.case6 proband
M
-
-
-
-
0
-
-
FMD1
-
1
1
Yu Sun
00028738
-
PubMed: Robertson 2006
16835913.case7
M
-
-
-
-
0
-
-
FMD1
-
1
1
Yu Sun
00028739
-
PubMed: Zenker 2006
unaffected daugther, mother of 16596676.fam2.son
F
-
-
-
-
0
-
-
FMD1
-
1
1
Yu Sun
00028740
-
PubMed: Zenker 2006
son of 16596676.fam2.mother, unaffected sibling sister
M
-
-
-
-
0
-
-
FMD1
-
1
1
Yu Sun
00028741
-
PubMed: Stefenova 2005
mother of III-2,III-3
F
-
-
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028742
-
PubMed: Stefenova 2005
mother of IV-2
F
-
-
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028743
-
PubMed: Stefenova 2005
mother of IV-3
F
-
-
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028744
-
PubMed: Stefenova 2005
daughter of III-2
F
-
-
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028745
-
PubMed: Stefenova 2005
daughter of III-3
F
-
-
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028746
-
PubMed: Stefenova 2005
mother of II-3
F
-
-
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028747
-
PubMed: Sheen 2005
-
F
-
-
-
-
0
-
-
PVNH4
-
1
1
Yu Sun
00028748
-
PubMed: Sheen 2005
-
F
-
-
-
-
0
-
-
PVNH4
-
1
1
Yu Sun
00028749
-
PubMed: Sheen 2005
son of III-6
F
-
-
-
-
0
-
-
PVNH4
###
1
1
Yu Sun
00028750
-
PubMed: Hidalgo-Bravo 2005
healthy parents and nine healthy siblings
F
-
Mexico
-
-
0
-
-
OPD1
-
1
1
Yu Sun
00028751
-
PubMed: Gomez-Garre 2006
mother of III-2
F
-
-
-
-
0
-
-
PVNH4
skin hyperelasticity, joint hypermobility, elbow and scapulohumeral dislocation, subarachnoid haemorrhage, hiatus hernia, mitral prolapse
1
1
Yu Sun
00028752
-
PubMed: Gomez-Garre 2006
mother of IV-1,daughter of II-2
F
-
-
-
-
0
-
-
PVNH4
skin hyperelasticity, joint hypermobility, shoulder and knee dislocations, high arched palate, lumbar scoliosis, pectus excavatum
1
1
Yu Sun
00028753
-
PubMed: Gomez-Garre 2006
daughter of III-2
F
-
-
-
-
0
-
-
PVNH4
skin hyperelasticity, joint hypermobility, knee dislocations, bilateral inguinal hernias, pyloric stenosis, high arched palate, lumbar hyperlordosis
1
1
Yu Sun
00028754
-
PubMed: Gerard-Blanluet 2006
mother of 16596669.III6,III7,III8
F
-
-
-
-
0
-
-
PVNH1
-
1
1
Yu Sun
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