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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00018483 |
- |
- |
Typical Say Barber Biesecker |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018485 |
- |
- |
Say Barber Biesecker Study |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018486 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018488 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018491 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018492 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018493 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018494 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018495 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018496 |
- |
- |
- |
F |
no |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018497 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018498 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018499 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018500 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018501 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018502 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018504 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018505 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018506 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018507 |
- |
- |
Studied in Ulm |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018509 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018512 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
GTPTS |
- |
1 |
1 |
Jill Clayton-Smith |
00018513 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
GTPTS |
- |
1 |
1 |
Jill Clayton-Smith |
00018514 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
GTPTS |
- |
1 |
1 |
Jill Clayton-Smith |
00018515 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Jill Clayton-Smith |
00018516 |
- |
PubMed: Clayton-Smith et al. |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cryptorchidism; Hypospadias; Height 50 pctile; Weight 25 pctile; OFC <3 pctile; ; |
1 |
1 |
Philippe Campeau |
00018517 |
- |
PubMed: Clayton-Smith et al. |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 0.4 pctile; Hypotonia; Learning Disability; Feeding problems; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; Height 25 pctile; Weight 25 pctile; OFC 2 pctile; |
1 |
1 |
Philippe Campeau |
00018518 |
- |
PubMed: Clayton-Smith et al. |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Heart Defect; Cryptorchidism; Height 50 pctile; Weight 50 pctile; OFC 2 pctile; |
1 |
1 |
Philippe Campeau |
00018519 |
- |
PubMed: Clayton-Smith et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Lacrimal ductabn.; Thyroid abnormal; Heart Defect; Height 9 pctile; Weight 75 pctile; OFC 91 pctile |
1 |
1 |
Philippe Campeau |
00018520 |
- |
PubMed: Clayton-Smith et al. |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; |
1 |
1 |
Philippe Campeau |
00018521 |
- |
PubMed: Clayton-Smith et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; |
1 |
1 |
Philippe Campeau |
00018522 |
- |
PubMed: Clayton-Smith et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Lacrimal ductabn.; Cleft palate; Heart Defect; Height 2 pctile; Weight 9 pctile; OFC 2 to 9 pctile; |
1 |
1 |
Philippe Campeau |
00018523 |
- |
PubMed: Clayton-Smith et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Height 2 to 9 pctile; Weight 50 pctile; OFC 50-75 pctile; |
1 |
1 |
Philippe Campeau |
00018524 |
- |
PubMed: Clayton-Smith et al. |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Cryptorchidism; Height 25-50 pctile; Weight 98 pctile; OFC 25-50 pctile; |
1 |
1 |
Philippe Campeau |
00018525 |
- |
PubMed: Clayton-Smith et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cleft palate; Height 50 pctile; Weight 75 pctile; OFC <50 pctile; |
1 |
1 |
Philippe Campeau |
00018526 |
- |
PubMed: Clayton-Smith et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Hypotonia; Feeding problems; Dental anomalies; Thyroid abnormal; Height 25 pctile; Weight 25 pctile; OFC 25 pctile; |
1 |
1 |
Philippe Campeau |
00018527 |
- |
- |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Absent or hypoplastic patellae; Flexion deformities; Club feet; Pelvic anomalies; Radioulnar synostosis; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Hearing loss; Anteriorly positioned anus; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Atrial septal defect; Tortuous ascending aorta; Facial dysmorphisms; Broad nasal bridge; Resp distress/apnea; |
1 |
1 |
Philippe Campeau |
00018528 |
- |
PubMed: Simpson et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Hypoplastic patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defects (ASD, VSD, PDA); |
1 |
1 |
Philippe Campeau |
00018529 |
- |
- |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Clitoral hypertrophy; Absent patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Pelvic anomaly |
1 |
1 |
Philippe Campeau |
00018530 |
- |
- |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defect (ASD) |
1 |
1 |
Philippe Campeau |
00018531 |
- |
- |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Coarse face; Broad/bulbous nose; Hydronephrosis; Pelvic anomaly; Congenital heart defect (PDA); |
1 |
1 |
Philippe Campeau |
00018532 |
- |
- |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Flexion contractures of the hips; Flexion contractures of the knees; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Pelvic anomaly |
1 |
1 |
Philippe Campeau |
00018533 |
- |
PubMed: Kraft M et al. |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
NS |
Noonan syndrome–like phenotype; microcephaly; ADHD, IQ 75-80; Normal MRI; Blepharophimosis; Ptosis ; High arched eyebrows ; Low-set ears with overfolded helix and fleshy lobe, ; Smooth philtrum; Retrognathia; High arched palate; Short stature; Retarded bone age; Ligamentous laxity; |
1 |
1 |
Philippe Campeau |
00018534 |
- |
- |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Oligohydramnios noted at 6 mo. Gestation; B wt 3.2 kg, term; Seizures from neonatal period; Failure to thrive; Global developmental delay; Microcephaly; Facial dysmorphism; Sparse hair- scalp, eye brow; Deficient abdominal wall muscles; Rudimentary scrotum, absent testes; Flexion contracure both hip and knee; Absent patellae both sides; CTEV on right side; Small patent ductus arteriosus; USG- Right PUJ obstruction with hydronephrosis, testes not imaged in inguinal canal or pelvis; EEG- bilateral epileptiform discharges; MRI- complete absence of corpus callosum; Left femoral head dislocated; MCU- dilatation of prostatic urethra, no VUR |
1 |
1 |
Philippe Campeau |
00018535 |
- |
- |
- |
- |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00018536 |
- |
Szakszon et al, AJMG 2013 |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Small for gestational age, patent foramen ovale, gastrectasia, kidney lithiasis. developmental delay, severe hypotonia, feeding difficulties, urinary infections, and primary hypothyroidism. length <3rd centile, weight 3rd centile, and OFC 5th centile. Immobile face, a broad forehead with slight biparietal narrowing, sparse eyebrows and eyelashes, blepharophimosis, telecanthus, a broad and flat nasal bridge, a short nose with a bulbous nasal tip, a long philtrum, thin lip vermilion, and micrognathia. Ears posteriorly angulated, large, and apparently low-set. Broad and short neck. High palate. Fingers tapering with clinodactyly of the 5th fingers. The length of the middle finger was at the 25th centile while both thumbs appeared long. Bilateral cryptorchidism. |
1 |
1 |
Philippe Campeau |
00018537 |
- |
Szakszon et al, AJMG 2013 |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
failure to thrive, hypotonia, cleft palate, and developmental delay. Round face, bilateral blepharophimosis, ptosis, apparently low-set and short ears with overfolded helix, prominent crus helix and antihelix, stenotic external ear canals, hypertelorism, low nasal bridge, long philtrum, thin lip; vermilion, and dental anomalies. The proximal phalanx of the thumbs was long. No visceral malformation; was detected on ultrasound examinations. She had primary hypothyroidism. Hearing impairment found by auditory steady state responses (ASSR) was mild and she did not require hearing aids. Motor and intellectual; development was severely delayed. IQ 38, severe intellectual disability. Brain MRI revealed delayed myelination and disruption of tracts in the periventricular white matter [Szakszon et al., 2011]. At 4 years, the bony islands of the patellae have not yet appeared, consistent with delayed ossification. |
1 |
1 |
Philippe Campeau |
00018538 |
- |
- |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Absent or hypoplastic patellae; Flexion deformities; Club feet; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Hearing loss; Scrotal hypoplasia; Cryptochidism; Hydronephrosis; Patent ductus arteriosus; Patent foramen ovale and; Facial dysmorphisms; Broad nasal bridge; Tracheo/laryngomalacia; Feeding difficulties; Resp distress/apnea; |
1 |
1 |
Philippe Campeau |
00018539 |
- |
- |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Absent or hypoplastic patellae; Flexion deformities; Club feet; Brachydactyly; Short stature; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Anteriorly positioned anus; Hypoplastic labia minora/majora; Underdeveloped clitoris; Hydronephrosis; Multicystic kidneys; Hypoplastic kidneys; Atrial septal defect; Facial dysmorphisms; Prominent nasal bridge; Teeth anomalies; sparse hair; Tracheo/laryngomalacia; Feeding difficulties; Small bowel malrotation |
1 |
1 |
Philippe Campeau |
00018540 |
- |
- |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Absent or hypoplastic patellae; Flexion deformities; Club feet; Thoracolumbar kyphosis/scoliosis; Pelvic anomalies; ; Rib anomalies; Joint laxity; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Isolated seizure; Optic atrophy/cortical visual impairment; Anal atresia/stenosis; Scrotal hypoplasia; Hydronephrosis; Atrial septal defect; Ventricular septal defect; Facial dysmorphisms; Prominent nasal bridge; Retrognatia/micrognatia; full cheeks; ear anomalies; Teeth anomalies; sparse hair; Single palmar crease; Feeding difficulties; Skin laxity/redundance; |
1 |
1 |
Philippe Campeau |
00018541 |
- |
- |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Absent or hypoplastic patellae; Flexion deformities; Club feet; Thoracolumbar kyphosis/scoliosis; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Subdural hemorrhage; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Facial dysmorphisms; Feeding difficulties; Hypothyroidism; |
1 |
1 |
Philippe Campeau |
00018542 |
- |
- |
- |
M |
? |
? (unknown) |
? |
- |
0 |
- |
- |
GTPTS |
Absent or hypoplastic patellae; Flexion deformities; Club feet; Developmental delay or intellectual disability; Absent or thin corpus callosum; Pachygyria ; Subependymal periventricular nodular heterotopia; Anal atresia/stenosis; Rectal duplication; Scrotal hypoplasia; Cryptochidism; Multicystic kidneys; Atrial septal defect; ; |
1 |
1 |
Philippe Campeau |
00018543 |
- |
PubMed: Clayton-Smith et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Mask-like facial appearance; Birth weight 75 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; |
1 |
1 |
Philippe Campeau |
00018544 |
- |
PubMed: Clayton-Smith et al. |
- |
F |
? |
? (unknown) |
? |
- |
0 |
- |
- |
SBBYSS |
Birth weight 24 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Thyroid abnormal; Height 25 pctile; Weight 50 pctile; OFC 9 pctile; |
1 |
1 |
Philippe Campeau |
00050412 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
M |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
Decipher |
- |
? |
intrauterine growth retardation, delayed speech and language development, specific learning disability, telecanthus, blepharophimosis, microtia |
1 |
1 |
Johan den Dunnen |
00050507 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
Decipher |
- |
? |
blepharophimosis, global developmental delay, congenital ptosis, generalized hypotonia, narrow forehead, bilateral single transverse palmar creases, abnormality of the face, small chin, epicanthus, low-set posteriorly rotated ears |
1 |
1 |
Johan den Dunnen |
00050628 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, affected father/child |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
Decipher |
- |
? |
cognitive impairment, microcephaly, gait ataxia, slender build, short stature |
1 |
2 |
Johan den Dunnen |
00050641 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, affected and affected2nd degree relatives |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
Decipher |
- |
? |
microcephaly, supernumerary nipples, pectus carinatum, global developmental delay, specific learning disability, delayed speech and language development, incomprehensible speech |
1 |
1 |
Johan den Dunnen |
00080993 |
- |
PubMed: Trujillano 2017 |
unaffected non-carrier parents |
- |
- |
- |
- |
- |
0 |
- |
- |
GTPTS |
Genitopatellar syndrome (OMIM:606170) |
1 |
1 |
Daniel Trujillano |
00164738 |
P1 |
- |
- |
M |
no |
Spain |
White |
11y |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Alejandro Brea-Fernández |
00164739 |
P2 |
- |
- |
M |
no |
Spain |
White |
06y |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Alejandro Brea-Fernández |
00176986 |
- |
PubMed: Lonardo 2017] |
GPS and SBBYSS features present |
M |
no |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00176987 |
- |
PubMed: Lundsgaard 2017 ] |
- |
F |
no |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00176989 |
- |
PubMed: Okano 2018] |
Genitopatellar syndrome (GPS) |
F |
no |
Japan |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00176993 |
- |
PubMed: Li 2017 |
- |
M |
yes |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00176994 |
- |
PubMed: Vlckova 2015 |
- |
F |
no |
Czech Republic |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177093 |
- |
PubMed: Knight 2018] |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177094 |
- |
PubMed: Niida 2017] |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177097 |
Daughter in report |
PubMed: Kim 2017] |
- |
F |
no |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177098 |
Father in report |
PubMed: Kim 2017] |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177099 |
Uncle in report |
PubMed: Kim 2017] |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177100 |
- |
PubMed: Marangi 2017] |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177101 |
- |
PubMed: Radvanszky 2017] |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177102 |
Patient 1 in report |
PubMed: 1 |
- |
F |
no |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177103 |
Patient 2 in report |
PubMed: Yilmaz 2015] |
- |
F |
yes |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177104 |
Patient 3 in report |
PubMed: Yilmaz 2015] |
- |
F |
no |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177105 |
Patient 1 in report |
PubMed: Bashir 2017] |
- |
M |
no |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00177107 |
Patient 2 in report |
PubMed: Bashir 2017] |
- |
M |
no |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Philippe Campeau |
00218352 |
- |
- |
- |
M |
no |
Argentina |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Marisol Delea |
00290142 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
0 |
- |
- |
? |
- |
1 |
8 |
Mohammed Faruq |
00290143 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
0 |
- |
- |
? |
- |
1 |
6 |
Mohammed Faruq |
00290144 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
0 |
- |
- |
? |
- |
1 |
164 |
Mohammed Faruq |
00295780 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
GTPTS |
- |
1 |
1 |
Philippe Campeau |
00295781 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
GTPTS |
- |
1 |
1 |
Philippe Campeau |
00295782 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
GTPTS |
- |
1 |
1 |
Philippe Campeau |
00295783 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
GTPTS |
- |
1 |
1 |
Philippe Campeau |
00295784 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295785 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295786 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295787 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295788 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295789 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295790 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295791 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295792 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295793 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295794 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295795 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295796 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |
00295797 |
- |
- |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
SBBYSS |
- |
1 |
1 |
Philippe Campeau |