Global Variome shared LOVD
AFF4 (AF4/FMR2 family, member 4)
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All individuals with variants in gene AFF4
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
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
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"
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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.
12 entries on 1 page. Showing entries 1 - 12.
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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
00050575
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
F
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
?
intellectual disability, seizures
1
1
Johan den Dunnen
00248372
patient 1
PubMed: Raible 2019
2-generation family, 1 affected, unaffected non-carrier parents
F
-
-
-
-
-
-
-
NDD
round face, hair appears thick and coarse, eyes showed long eyelashes and thick eyebrows, synophyrys; developmental delay; low lying conus with lipoma of the filum terminale; Hyperreflexia; no hearing loss; no cataract; chronic lung disease (due to recurrent aspiration?); no tracheostomy; Sleep apnea; Asthma, history of pneumonia; PDA with repair; pulmonary hypertension; Delayed gastric emptying; constipation; no gastrostomy tube; splenomegaly by abd MRI; reflux; Horseshoe kidney; brachydactyly; Abnormal shape of vertebral bodies with decreased height most pronounced from T8 to L1. ; no microcephaly; 14y-OFC 25th percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; no immunodeficiency, see paper; ..., Synophrys, upturned nose, long philtrum, thick arched eyebrows, long eyelashes, large anterior fontanelle, microcephaly, microbrachycephaly, Wormian bones on her skull; birth weight 2,381 g (−1.94 SD), head circumference 31.1 cm (−2.3 SD); latest weight 32.9 kg (−3.7 SD), height 118.1 cm (−6.9 SD), head circumferance 53 cm (25th centile) 14y; PDA, chronic right‐sided heart failure, pulmonary hypertension; Chronic lung disease of uncertain etiology (status post ARDS) and low oxygen saturations, sleep apnea, asthma, history of aspiration and pneumonia; No hearing loss; Brachydactyly, small hands with proximally placed thumbs, abnormal shape of vertebral bodies with decreased height most pronounced from T8 to L1; Horseshoe kidney with repeated episodes of acute kidney injury, chronic kidney disease, diuretic‐associated metabolic alkalosis and hypokalemia; Vomiting and dehydration with delayed gastric emptying, constipation, Candida esophagitis, GERD; Coarse hair
1
1
Johan den Dunnen
00248373
patient 2
PubMed: Raible 2019
2-generation family, 1 affected, unaffected non-carrier parents
M
-
-
-
-
-
-
-
NDD
proptotic appearance to eyes, eyebrows were thick with arch and synophrys, hypertelorism, thickened helices, short nose with upturn, long philtrum, thickened tongue, high narrow palate ; developmental delay; hearing loss; no cataract; Myopia and mild optic atrophy; Subglottic stenosis (grade 2-3) and tracheomalcia, laryngomalasia; chronic lung disease; tracheostomy; Aspiration pneumonia; VSD, PDA with repair, anomalous pulmonary vein; g astrostomy tube Nissen G-tube; reflux; cryptorchidism; bilateral ureteral reflux ; brachydactyly; Congenital fusion of vertebrae C2-C3 and a history of congenital hip subluxation bilaterally. ; hypoplastic changes of L1 and L2 with anterior beaking; no microcephaly; 8y-head circumference 3rd-10th percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; history of fungal sepsis
1
1
Johan den Dunnen
00248375
patient 4
PubMed: Raible 2019
-
F
-
-
-
-
-
-
-
NDD
see paper; …, Synophrys, upturned nose, long eyelashes, microcephaly, plagiocephaly; birth weight 2,182 g (−2.27 SD), height 43 cm (−3.6 SD), head circumference 32 cm (−1.6 SD); latest weight 41.7 cm (+1.5 SD), height 120 cm (−3.5 SD), head circumferance 50 cm (−2 SD) ; VSD, PDA; Chronic respiratory issues when young‐resolved; No hearing loss; Brachydactyly, short stature treated with growth hormone treatment; no genitourinary reported; no GI reported; Hypothyroidism
1
1
Johan den Dunnen
00248376
patient 5
PubMed: Raible 2019
-
M
-
-
-
-
-
-
-
NDD
see paper; …, Synophrys, upturned nose, downslanting palpebral fissures, prominent vertical forehead crease, large anterior fontanelle, thick cranial vault with prominent Wormian bones along the lambdoid suture, microbrachycephaly; birth weight 3,430 g (−0.18 SD), height 48 cm (−0.75 SD), head circumference 34.5 cm (0 SD); latest weight 84.8 kg (+0.98 SD), height 142.7 cm (−4.6 SD), head circumferance 58 cm (+2 SD) ; None reported; Noisy breather and snores but not significant apnea; Mild sensorineural hearing loss; Brachydactyly, joint hypermobility (Beighton score 6/9), mild truncal hypotonia, osteopenic bones, immature ovoid appearance to the vertebral bodies of the thoracic and lumbar spine, narrowing of the T11/12 intervertebral disc space, mild shortening of the proximal humeri and metacarpals, hypoplasia of the distal phalanges of the toes, pes planus, limited extension of the right elbow, small hands and feet; Horseshoe kidney, mild coronal hypospadias (repaired), small genitalia; no GI reported; Strabismus, bilateral ptosis, gynecomastia, acanthosis nigricans, hirsutism
1
1
Johan den Dunnen
00248377
patient 6
PubMed: Raible 2019
-
F
-
-
-
-
-
-
-
NDD
see paper; …, Mild Synophrys with prominent eyebrows, prominent eyelashes, bilateral proptosis, facial hirsutism, upturned nose, bitemporal narrowing, microcephaly, cupped ears with simple helices, high arched palate, and clubbing of nails, hands and feet; birth weight 1,474 (−3.34 SD), height 38 cm (−6.17 SD); latest weight 20.9 kg (−2 SD), height 93.8 cm (−5.9 SD), head circumferance 47 cm (−4.1 SD) ; VSD, congenital dilated aortic root, pulmonary hypertension; Subglottic stenosis, chronic lung disease and respiratory failure, tracheostomy, idiopathic pulmonary hemosiderosis, diffuse pulmonary alveolar hemorrhage, acute interstitial pneumonia; Bilateral sensorineural hearing loss; Absent left thumb (not congenital); Single kidney, sexual precocity; Nissen‐G tube, constipation, GERD; Astigmatism, otorrhea, optic nerve hypoplasia of left eye, intermittent exotropia, ptosis, chronic bilateral otitis media, hyperglycemia, polycythemia, steroid‐induced diabetes mellitus, iatrogenic adrenal insufficiency, prematurity
1
1
Johan den Dunnen
00248378
patient 7
PubMed: Raible 2019
-
F
-
-
-
-
-
-
-
NDD
see paper; …, Synophrys, trace proptosis, small upturned nose with shallow bridge, prominent cheeks, macroglossia, micrognathia, bitemporal narrowing, and microcephaly; birth weight 2,239 g (−2.18 SD), height 43 cm (−2.98 SD), head circumference 29.5 cm (−3.7SD); latest weight 10.82 kg (−1.1 SD), height 73 cm (−4.1 SD), head circumferance 43.5 cm (−2.8 SD) ; PDA, PFO, dilated aortic root; History of pneumonia, chronic lung disease, chronic congestion and noisy breathing, acute chronic respiratory failure, subglottic narrowing of trachea; Mild conductive hearing loss; Disharmonic skeletal maturation of the hands; no genitourinary reported; G tube, dysphagia; Obstruction of nasolacrimal duct, chronic bilateral otitis media, sacral mass (removed), jaundice
1
1
Johan den Dunnen
00248379
patient 8
PubMed: Raible 2019
-
M
-
-
-
-
-
-
-
NDD
see paper; …, Synophrys, coarse appearance to features; birth weight 2,070 g (−1.5 SD), height 43 cm (−1.9 SD), head circumference 29 cm (−3.23 SD); latest weight 10th centile, height 90 cm (−6.1SD), head circumferance 3rd centile; None reported; History of aspirations; Mixed hearing loss; Brachydactyly; no genitourinary reported; no GI reported; Mild myopia with strabismus, skin changes (sun exposed erythema and mottling of his skin)
1
1
Johan den Dunnen
00248380
patient 9
PubMed: Raible 2019
-
M
-
-
-
-
-
-
-
NDD
see paper; …, Round face, brachiocephaly, microcephaly, long eyelashes, high arch eyebrows/curved, broad ICD, ears cupped and somewhat simplified; birth weight 1,170 g (−3.13 SD); latest weight 17.3 kg (−1.5 SD), height 88 cm (−5.7 SD), head circumferance 48 cm (−2.6 SD) ; PDA, PFO; Chronic lung disease due to apnea and aspirations, tracheostomy; Bilateral sensorineural hearing loss (improved); None reported; no genitourinary reported; G tube; Cataract, myopia, amblyopia, exophoria, growth hormone deficiency
1
1
Johan den Dunnen
00248381
patient 10
PubMed: Raible 2019
-
F
-
-
-
-
-
-
-
NDD
see paper; …, Round face, synophrys, downturn corners of the mouth, curly hair, long eyelashes and thick eyebrows; birth weight 2,570 g (−1.1 SD), height 50 cm (+0.8 SD), head circumference 33 cm (+0.1 SD); latest weight 16 kg (−2.1 SD), height 98.5 cm (−4.7SD), head circumferance 47.6 cm (−1.9 SD) ; VSD; None reported; Bilateral conductive hearing loss; Brachydactyly; no genitourinary reported; G tube; Cataract, low lying conus with lipoma of the filum terminale
1
1
Johan den Dunnen
00248382
patient 11
PubMed: Raible 2019
-
M
-
-
-
-
-
-
-
NDD
see paper; …, Round face, arched eyebrows, long philtrum, thin upper lip, low‐set posteriorly rotated ears; birth weight 1,560 g (−4.6SD, height 39 cm (−5.8 SD), head circumference 29 cm (−4.3 SD); latest weight 8.6 kg (−1.1 SD), height 66 cm (−4.1 SD), head circumferance 42 cm (−3.2 SD); None reported; Episodes of pneumonia and upper respiratory infection; Mixed bilateral hearing loss; Brachydactyly; small hands and feet, left fifth finger clinodactyly, single crease on left fifth finger, abnormal shape of vertebral bones, short iliac bones, small left femoral head; Short prepuce; History of constipation
1
1
Johan den Dunnen
00293745
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
1
Mohammed Faruq
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